Agenesis of corpus callosum. Medical search

Broad plate of dense myelinated fibers that reciprocally interconnect regions of the cortex in all lobes with corresponding regions of the opposite hemisphere. The corpus callosum is located deep in the longitudinal fissure.

Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.

Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.

The yellow body derived from the ruptured OVARIAN FOLLICLE after OVULATION. The process of corpus luteum formation, LUTEINIZATION, is regulated by LUTEINIZING HORMONE.

A physical property showing different values in relation to the direction in or along which the measurement is made. The physical property may be with regard to thermal or electric conductivity or light refraction. In crystallography, it describes crystals whose index of refraction varies with the direction of the incident light. It is also called acolotropy and colotropy. The opposite of anisotropy is isotropy wherein the same values characterize the object when measured along axes in all directions.

A class of nerve fibers as defined by their structure, specifically the nerve sheath arrangement. The AXONS of the myelinated nerve fibers are completely encased in a MYELIN SHEATH. They are fibers of relatively large and varied diameters. Their NEURAL CONDUCTION rates are faster than those of the unmyelinated nerve fibers (NERVE FIBERS, UNMYELINATED). Myelinated nerve fibers are present in somatic and autonomic nerves.

The use of diffusion ANISOTROPY data from diffusion magnetic resonance imaging results to construct images based on the direction of the faster diffusing molecules.

Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.

Copper chelator that inhibits monoamine oxidase and causes liver and brain damage.

A diagnostic technique that incorporates the measurement of molecular diffusion (such as water or metabolites) for tissue assessment by MRI. The degree of molecular movement can be measured by changes of apparent diffusion coefficient (ADC) with time, as reflected by tissue microstructure. Diffusion MRI has been used to study BRAIN ISCHEMIA and tumor response to treatment.

Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)

Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.

The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.

WHITE MATTER pathway, flanked by nuclear masses, consisting of both afferent and efferent fibers projecting between the WHITE MATTER and the BRAINSTEM. It consists of three distinct parts: an anterior limb, posterior limb, and genu.

A relatively common sequela of blunt head injury, characterized by a global disruption of axons throughout the brain. Associated clinical features may include NEUROBEHAVIORAL MANIFESTATIONS; PERSISTENT VEGETATIVE STATE; DEMENTIA; and other disorders.

A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.

Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.

A triangular double membrane separating the anterior horns of the LATERAL VENTRICLES of the brain. It is situated in the median plane and bounded by the CORPUS CALLOSUM and the body and columns of the FORNIX (BRAIN).

Heavily myelinated fiber bundle of the TELENCEPHALON projecting from the hippocampal formation to the HYPOTHALAMUS. Some authorities consider the fornix part of the LIMBIC SYSTEM. The fimbria starts as a flattened band of axons arising from the subiculum and HIPPOCAMPUS, which then thickens to form the fornix.

A paired box transcription factor that is involved in ODONTOGENESIS.

Diseases characterized by loss or dysfunction of myelin in the central or peripheral nervous system.

Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.

Neural tracts connecting one part of the nervous system with another.

The lipid-rich sheath surrounding AXONS in both the CENTRAL NERVOUS SYSTEMS and PERIPHERAL NERVOUS SYSTEM. The myelin sheath is an electrical insulator and allows faster and more energetically efficient conduction of impulses. The sheath is formed by the cell membranes of glial cells (SCHWANN CELLS in the peripheral and OLIGODENDROGLIA in the central nervous system). Deterioration of the sheath in DEMYELINATING DISEASES is a serious clinical problem.

A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.

Congenital absence of or defects in structures of the teeth.

Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.

The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.

A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as SATELLITE CELLS, PERINEURONAL of GANGLIA) according to their location. They form the insulating MYELIN SHEATH of axons in the central nervous system.

Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.

Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.

A characteristic symptom complex.

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.

Malformations of organs or body parts during development in utero.

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

Any of various diseases affecting the white matter of the central nervous system.

Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body.

Four CSF-filled (see CEREBROSPINAL FLUID) cavities within the cerebral hemispheres (LATERAL VENTRICLES), in the midline (THIRD VENTRICLE) and within the PONS and MEDULLA OBLONGATA (FOURTH VENTRICLE).

Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.

Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.

A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)

Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits.

Dominance of one cerebral hemisphere over the other in cerebral functions.

Paired or fused ganglion-like bodies in the head of insects. The bodies secrete hormones important in the regulation of metamorphosis and the development of some adult tissues.

A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)

A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well.

The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.

Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.

Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)

A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.

The measurement of an organ in volume, mass, or heaviness.

Non-invasive methods of visualizing the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities.

An infant during the first month after birth.

Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.

Derived from TELENCEPHALON, cerebrum is composed of a right and a left hemisphere. Each contains an outer cerebral cortex and a subcortical basal ganglia. The cerebrum includes all parts within the skull except the MEDULLA OBLONGATA, the PONS, and the CEREBELLUM. Cerebral functions include sensorimotor, emotional, and intellectual activities.

A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

Physiologic loss of the primary dentition. (Zwemer, Boucher's Clinical Dental Terminology, 4th ed)

A homeodomain protein that interacts with TATA-BOX BINDING PROTEIN. It represses GENETIC TRANSCRIPTION of target GENES and plays a critical role in ODONTOGENESIS.

A genus of the family CEBIDAE, subfamily CEBINAE, consisting of four species which are divided into two groups, the tufted and untufted. C. apella has tufts of hair over the eyes and sides of the head. The remaining species are without tufts - C. capucinus, C. nigrivultatus, and C. albifrons. Cebus inhabits the forests of Central and South America.

A benign tumor composed of fat cells (ADIPOCYTES). It can be surrounded by a thin layer of connective tissue (encapsulated), or diffuse without the capsule.

Methods developed to aid in the interpretation of ultrasound, radiographic images, etc., for diagnosis of disease.

The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.

Disorders resulting from defects in migration of neuronal cells during neurogenesis. Developing nerve cells either fail to migrate or they migrate to incorrect positions resulting in formation of heterotopias, lissencephaly, or other malformations and dysfunctions of the nervous system.

An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.

The non-neuronal cells of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu, participate in the BLOOD-BRAIN BARRIER and BLOOD-RETINAL BARRIER, form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear.

Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.

The external reproductive organ of males. It is composed of a mass of erectile tissue enclosed in three cylindrical fibrous compartments. Two of the three compartments, the corpus cavernosa, are placed side-by-side along the upper part of the organ. The third compartment below, the corpus spongiosum, houses the urethra.

The species Orcinus orca, in the family Delphinidae, characterized by its black and white coloration, and huge triangular dorsal fin. It is the largest member of the DOLPHINS and derives its name from the fact that it is a fearsome predator.

The process of generating three-dimensional images by electronic, photographic, or other methods. For example, three-dimensional images can be generated by assembling multiple tomographic images with the aid of a computer, while photographic 3-D images (HOLOGRAPHY) can be made by exposing film to the interference pattern created when two laser light sources shine on an object.

The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.

Cavity in each of the CEREBRAL HEMISPHERES derived from the cavity of the embryonic NEURAL TUBE. They are separated from each other by the SEPTUM PELLUCIDUM, and each communicates with the THIRD VENTRICLE by the foramen of Monro, through which also the choroid plexuses (CHOROID PLEXUS) of the lateral ventricles become continuous with that of the third ventricle.

Tests for central hearing disorders based on the competing message technique (binaural separation).

Process of maintaining the functions of CORPORA LUTEA, specifically PROGESTERONE production which is regulated primarily by pituitary LUTEINIZING HORMONE in cycling females, and by PLACENTAL HORMONES in pregnant females. The ability to maintain luteal functions is important in PREGNANCY MAINTENANCE.

The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.

A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.

Use of reflected ultrasound in the diagnosis of intracranial pathologic processes.

Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.

Organs or parts of organs surgically formed from nearby tissue to function as substitutes for diseased or surgically removed tissue.

A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)

Degradation of CORPUS LUTEUM. In the absence of pregnancy and diminishing trophic hormones, the corpus luteum undergoes luteolysis which is characterized by the involution and cessation of its endocrine function.

Callosal and cortical contribution to procedural learning. (1/203)

Acallosal and callosotomized subjects usually show impairments on tasks requiring bilateral interdependent motor control. However, few studies have assessed the ability of these subjects to learn a skill that requires the simultaneous contribution of each hemisphere in its acquisition. The present study examined whether acallosal and callosotomized subjects could learn a visuomotor skill that involved a motor control from either both or a single hemisphere. Eleven adult patients, six acallosal and five callosotomized, participated in this study. Seven of these patients had epileptic foci located in the frontal and/or temporal areas and one of the acallosal patients showed bilateral prefrontal atrophy following surgical removal of an orbitofrontal cyst. The performance of the experimental subjects was compared with that of 11 matched control subjects, on a modified version of a serial reaction time task developed by Nissen and Bullemer (Cogn Psychol 1987; 19: 1-32). This skill acquisition task involved bimanual or unimanual key-pressing responses to a sequence of 10 visual stimuli that was repeated 160 times. A declarative memory task was then performed to assess explicit knowledge of the sequence. None of the experimental subjects learned the task in the bimanual condition. Patients with frontal epileptic foci or orbitofrontal damage also failed to learn the task in the unimanual condition when they were using the hand contralateral to the damaged hemisphere. All other subjects, including the acallosal and callosotomized patients with temporal foci, learned the visuomotor skill as well as their controls in the unimanual condition. In spite of the absence of transfer and interhemispheric integration of procedural learning, some of the acallosal and callosotomized patients were able to learn the sequence explicitly. These findings indicate that the corpus callosum and the frontal cortical areas are important for procedural learning of a visuomotor skill. They also confirm the dissociation described by Squire (Science 1986; 232: 1612-9 and J Cogn Neurosci 1992; 4: 232-43) between the declarative and procedural memory systems and extend this dissociation to processes involving simultaneous bihemispheric co-operation. (+info)

Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice. (2/203)

In humans, mutations in the L1 cell adhesion molecule are associated with a neurological syndrome termed CRASH, which includes corpus callosum agenesis, mental retardation, adducted thumbs, spasticity, and hydrocephalus. A mouse model with a null mutation in the L1 gene (Cohen et al., 1997) was analyzed for brain abnormalities by Nissl and Golgi staining and immunocytochemistry. In the motor, somatosensory, and visual cortex, many pyramidal neurons in layer V exhibited undulating apical dendrites that did not reach layer I. The hippocampus of L1 mutant mice was smaller than normal, with fewer pyramidal and granule cells. The corpus callosum of L1-minus mice was reduced in size because of the failure of many callosal axons to cross the midline. Enlarged ventricles and septal abnormalities were also features of the mutant mouse brain. Immunoperoxidase staining showed that L1 was abundant in developing neurons at embryonic day 18 (E18) in wild-type cerebral cortex, hippocampus, and corpus callosum and then declined to low levels with maturation. In the E18 cortex, L1 colocalized with microtubule-associated protein 2, a marker of dendrites and somata. These new findings suggest new roles for L1 in the mechanism of cortical dendrite differentiation, as well as in guidance of callosal axons and regulation of hippocampal development. The phenotype of the L1 mutant mouse indicates that it is a potentially valuable model for the human CRASH syndrome. (+info)

Reduction cranioplasty for macrocephaly. Two case reports. (3/203)

Multi-stage reduction cranioplasty was performed on two children with severe macrocephaly secondary to hydrocephalus. One patient underwent a four-stage operation, and the other underwent a two-stage operation. The postoperative course of both patients was uneventful. Reduction cranioplasty improved quality of life for both patients, and good cosmetic results were achieved. Reduction cranioplasty is effective for the treatment of macrocephaly, and multi-stage surgery can reduce the associated risks. (+info)

Dissociation of the pathways mediating ipsilateral and contralateral motor-evoked potentials in human hand and arm muscles. (4/203)

1. Growing evidence points toward involvement of the human motor cortex in the control of the ipsilateral hand. We used focal transcranial magnetic stimulation (TMS) to examine the pathways of these ipsilateral motor effects. 2. Ipsilateral motor-evoked potentials (MEPs) were obtained in hand and arm muscles of all 10 healthy adult subjects tested. They occurred in the finger and wrist extensors and the biceps, but no response or inhibitory responses were observed in the opponens pollicis, finger and wrist flexors and the triceps. 3. The production of ipsilateral MEPs required contraction of the target muscle. The threshold TMS intensity for ipsilateral MEPs was on average 1.8 times higher, and the onset was 5.7 ms later (in the wrist extensor muscles) compared with size-matched contralateral MEPs. 4. The corticofugal pathways of ipsilateral and contralateral MEPs could be dissociated through differences in cortical map location and preferred stimulating current direction. 5. Both ipsi- and contralateral MEPs in the wrist extensors increased with lateral head rotation toward, and decreased with head rotation away from, the side of the TMS, suggesting a privileged input of the asymmetrical tonic neck reflex to the pathway of the ipsilateral MEP. 6. Large ipsilateral MEPs were obtained in a patient with complete agenesis of the corpus callosum. 7. The dissociation of the pathways for ipsilateral and contralateral MEPs indicates that corticofugal motor fibres other than the fast-conducting crossed corticomotoneuronal system can be activated by TMS. Our data suggest an ipsilateral oligosynaptic pathway, such as a corticoreticulospinal or a corticopropriospinal projection as the route for the ipsilateral MEP. Other pathways, such as branching of corticomotoneuronal axons, a transcallosal projection or a slow-conducting monosynaptic ipsilateral pathway are very unlikely or can be excluded. (+info)

The homeodomain protein vax1 is required for axon guidance and major tract formation in the developing forebrain. (5/203)

The homeodomain protein Vax1 is expressed in a highly circumscribed set of cells at the ventral anterior midline of the embryonic CNS. These cells populate the choroid fissure of the optic disk, the body of the optic stalk and nerve, the optic chiasm and ventral diencephalon, and the anterior midline zones that abut developing commissural tracts. We have generated mutant mice that lack Vax1. In these mice (1) the optic disks fail to close, leading to coloboma and loss of the eye-nerve boundary; (2) optic nerve glia fail to associate with and appear to repulse ingrowing retinal axons, resulting in a fascicle of axons that are completely segregated from optic nerve astrocytes; (3) retinal axons fail to penetrate the brain in significant numbers and fail to form an optic chiasm; and (4) axons in multiple commissural tracts of the anterior CNS, including the corpus callosum and the hippocampal and anterior commissures, fail to cross the midline. These axon guidance defects do not result from the death of normally Vax1(+) midline cells but, instead, correlate with markedly diminished expression of attractive guidance cues in these cells. Vax1 therefore regulates the guidance properties of a set of anterior midline cells that orchestrate axon trajectories in the developing mammalian forebrain. (+info)

Neuropathological abnormalities of the corpus callosum in schizophrenia: a diffusion tensor imaging study. (6/203)

OBJECTIVES: Diffusion tensor imaging (DTI), a technique capable of examining water diffusion in different tissues and the organisation of white matter tracts, was used to investigate the neuropathology of the corpus callosum in vivo in patients with schizophrenia. METHODS: Diffusion tensor imaging was performed in 20 schizophrenic patients and 25 healthy controls. Two complementary measures, mean diffusivity and fractional anisotropy, which are considered to be sensitive indices of axonal integrity, were obtained from regions of interest in the genu (anterior) and splenium (posterior) of the corpus callosum. RESULTS: Mean diffusivity was significantly increased and fractional anisotropy significantly reduced in the splenium but not the genu of the corpus callosum in the schizophrenic group compared with controls. There were no significant sex differences in the DTI measures for either the schizophrenic or control group. Clinical variables such as age, duration of illness, dose of antipsychotic medication, and schizophrenic symptoms did not predict the DTI changes in the schizophrenic patients. CONCLUSIONS: The presence of DTI changes in the splenium but not the genu of the corpus callosum suggests that there may be a focal disruption of commisural connectivity in schizophrenia. However, these findings do not exclude the possibility of abnormalities in other areas of the corpus callosum or other regions of white matter and further research using different methods of analysis may enable us to clarify this. Diffusion tensor imaging is a valuable tool in investigating the structure of white matter in schizophrenia. (+info)

Parallel visuomotor processing in the split brain: cortico-subcortical interactions. (7/203)

We tested nine patients with callosal pathology in a simple reaction time task with and without redundant targets in the same or opposite visual hemifield. Four patients showed large facilitation (redundancy gain) in the presence of a redundant target, exceeding probability summation models (neural summation). Five patients showed redundancy gain not exceeding probability models. Violation of probability models was not associated with a specific type of callosal lesion. Neural summation, which probably occurs at collicular level, may be modulated by cortical activity. To test this hypothesis, we used functional MRI. During detection of redundant simultaneous targets, activations in the extrastriate cortex were observed in a patient with callosal agenesis and redundancy gain violating probability models, but not in a patient with callosal agenesis and redundancy gain not exceeding probability models. We conclude that cortical activity in the extrastriate cortex may be a modulating factor in the magnitude of the redundancy gain during parallel visuomotor transforms. (+info)

Agenesis of corpus callosum - a rare case. (8/203)

A case of corpus callosum agenesis associated with a chromosomal structural defect is described. (+info)

... agenesis of the corpus callosum, a rare congenital disorder. It is characterized by a partial or complete absence (agenesis) of ... "Agenesis of Corpus Callosum". NORD (National Organization for Rare Disorders). Retrieved 2020-04-30. Bissonnette, Bruno; ... Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995). "CRASH syndrome: clinical spectrum of corpus callosum ... The patient was a 10-year-old boy with symptoms like, mild mental retardation, bilateral adducted thumbs and corpus callosum ...

https://en.wikipedia.org/wiki/MASA_syndrome

CSPG6 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; 300472; IGBP1 Corpus callosum, ... GATM Agenesis of the corpus callosum with peripheral neuropathy; 218000; SLC12A6 Aicardi-Goutières syndrome 1, dominant and ... MSX1 Tooth agenesis, selective, 3; 604625; PAX9 Tooth agenesis, selective, 6; 613097; LTBP3 Tooth agenesis, selective, X-linked ... UPK3A Renal agenesis; 191830; RET Renal carcinoma, chromophobe, somatic; 144700; FLCN Renal cell carcinoma; 144700; DIRC2 Renal ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

"Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia, and ... "AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN". www.omim.org. Retrieved 2017-01-19. RESERVED, INSERM US14 ... "Orphanet: Corpus callosum agenesis neuronopathy syndrome". www.orpha.net. Retrieved 2017-01-19. Dupré, Nicolas; Howard, Heidi C ... Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN) and Charlevoix disease, among other ...

https://en.wikipedia.org/wiki/Andermann_syndrome

"MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum". European Journal of Medical Genetics. 59 (8): 386- ... "Joubert syndrome with associated corpus callosum agenesis". European Journal of Paediatric Neurology. 6 (1): 63-66. doi:10.1053 ... Severe forms have been noted to include hypoplasia of the corpus callosum. Those suffering from this syndrome often exhibit ... Joubert M, Eisenring JJ, Robb JP, Andermann F (September 1969). "Familial agenesis of the cerebellar vermis. A syndrome of ...

https://en.wikipedia.org/wiki/Joubert_syndrome

This notably includes agenesis of the corpus callosum. Disturbances in the genesis of neural elements can result in cortical ...

https://en.wikipedia.org/wiki/Ganglionic_eminence

A correlation between agenesis of the corpus callosum and intellectual disability in LFS, however, has not been suggested. ... A relatively common brain anomaly seen with LFS is agenesis of the corpus callosum, an error of embryonic development in which ... Some features found in LFS, like agenesis of the corpus callosum and cartilage-related craniofacial anomalies, are similar to ... corpus callosum agenesis and hypotonia. Notable features of FGS that have not been reported with LFS include excessive ...

https://en.wikipedia.org/wiki/Lujan–Fryns_syndrome

Familial agenesis of corpus callosum with anterior horn cell disease. Trans Am Neurol Assoc 1972; 97: 242-244 Andermann E, ...

https://en.wikipedia.org/wiki/Frederick_Andermann

... agenesis of the corpus callosum), a condition in which the corpus callosum is partially or completely absent, had scores higher ... "Autism traits in individuals with agenesis of the corpus callosum". Journal of Autism and Developmental Disorders. 43 (5): 1106 ... The corpus callosum, the band of nerve fibers, that connects the left and right hemispheres of the brain also gets affected in ...

https://en.wikipedia.org/wiki/Developmental_disorder

... agenesis of corpus callosum). It was found that autism is commonly diagnosed in children where the corpus callosum does not ... May 2013). "Autism traits in individuals with agenesis of the corpus callosum". Journal of Autism and Developmental Disorders. ... of children with agenesis of the corpus callosum). A further example of brain structures relating to ASD is that children with ... A further example of how brain structure can influence ASD is looking at cases where the corpus callosum does not fully develop ...

https://en.wikipedia.org/wiki/Empathising–systemising_theory

Agenesis of the corpus callosum (ACC) is used to determine the frequency of social and behavioral problems in children with a ... For younger children, ages two to five, Agenesis of the corpus callosum causes problems in sleep. Sleep is critical for ... "Social and behavioral problems of children with agenesis of the corpus callosum". Child Psychiatry and Human Development. 38 (4 ... prevalence rate of about 2-3%. ACC is described as a defect in the brain where the 200 million axons that make the corpus ...

https://en.wikipedia.org/wiki/Child_psychopathology

... and agenesis of the corpus callosum". Clinical Dysmorphology. 4 (3): 246-50. PMID 7551162. Orpha.net - A listing of Rare ... This syndrome consists of ectrodactyly or lobster-like hands, diaphragmatic hernia and absence of the corpus callosum. In ...

https://en.wikipedia.org/wiki/Saal_Bulas_syndrome

... and agenesis of the corpus callosum. These defects contribute to the appearance of significant mental retardation in 31% of ...

https://en.wikipedia.org/wiki/Fetal_warfarin_syndrome

The corpus callosum (CC) is the major route of communication between the two hemispheres. At maturity it is a large mass of ... callosal agenesis, or hemispherectomy; Brain Res Cogn Brain Res 25(2), 2005 Bamiou D et al.; Auditory interhemispheric transfer ... With children the underdeveloped Corpus Callosum (CC) is unable, in any case, to transfer auditory streams arriving (from the ... Cocktail party effect Corpus callosum Presbycusis Spatial hearing Unilateral hearing loss SoundBite Hearing System Cameron S ...

https://en.wikipedia.org/wiki/Spatial_hearing_loss

... he has been studying the implications of agenesis of the corpus callosum (i.e., congenital absence of the corpus callosum, the ... Brown, W.S., Anderson, L., Symington, M.F. and Paul, L.K.(2012) Decision-Making in Agenesis of the Corpus Callosum: Expectancy- ... Brown, W.S. and Paul L.K., (2000) Psychosocial deficits in agenesis of the corpus callosum with normal intelligence. Cognitive ... Anderson, Luke B.; Paul, Lynn K.; Brown, Warren S. (2017). "Emotional Intelligence in Agenesis of the Corpus Callosum". ...

https://en.wikipedia.org/wiki/Warren_S._Brown

Defects in KCC3 are linked to agenesis of the corpus callosum with peripheral neuropathy. This disorder is characterised by ... dysmorphic features and complete or partial agenesis of the corpus callosum. Gillen CM, Brill S, Payne JA, Forbush B (July 1996 ... "The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum". Nat. ...

https://en.wikipedia.org/wiki/Electroneutral_cation-Cl

A reduced corpus callosum is present in some cases (agenesis of the corpus callosum). Gómez-López-Hernández syndrome is ... Choudhri AF, Patel RM, Wilroy RS, Pivnick EK, Whitehead MT (2015). "GTrigeminal nerve agenesis with absence of foramina rotunda ...

https://en.wikipedia.org/wiki/Gómez–López-Hernández_syndrome

partial or complete agenesis of the corpus callosum intellectual disability motor abnormalities visual defects such as, ... Corpus callosum is the band of white matter connecting the two cerebral hemispheres. The corpus callosum plays an extremely ... The partial or complete absence of white matter, also known as agenesis of the corpus callosum results in anatomic ... It is a nonspecific finding and is associated with multiple neurological syndromes, including agenesis of the corpus callosum, ...

https://en.wikipedia.org/wiki/Colpocephaly

Some individuals have had agenesis of the corpus callosum or aplasia of the cerebellar vermis. This can sometimes manifest with ...

https://en.wikipedia.org/wiki/CDK13-related_disorder

2002). "The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum ... Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. Solute carrier family ... GeneReview/NIH/UW entry on Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Race JE, Makhlouf FN, ...

https://en.wikipedia.org/wiki/SLC12A6

1999). "Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal ... 1999) "Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal ... 1988). "Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers". ... hypopigmentation and absent corpus callosum (or absent corpus callosum cataract immunodeficiency), is a rare autosomal ...

https://en.wikipedia.org/wiki/Vici_syndrome

Besides having small optic nerves, persons with ONH can have agenesis of the corpus callosum, absence of the septum pellucidum ... Abnormalities evident via neuroradiography can include agenesis (absence) or hypoplasia of the corpus callosum, absence or ... Predictors of significantly delayed development include hypoplasia or agenesis of the corpus callosum and hypothyroidism. The ... Hypoplasia of the corpus callosum, often in conjunction with other major malformations, is significantly associated with poor ...

https://en.wikipedia.org/wiki/Optic_nerve_hypoplasia

One such study supported colour perception in callosal agenesis (Those born without a corpus callosum; Barr & Corballis, 2002 ... The corpus callosum allows for communication between the two hemispheres and is found only in placental mammals (the eutherians ... The great majority of fibers connecting the two hemispheres travel through the corpus callosum, which is over 10 times larger ... Anterior commissure Posterior commissure Corpus callosum This article incorporates text in the public domain from page 840 of ...

https://en.wikipedia.org/wiki/Anterior_commissure

Partial or complete absence of the corpus callosum in the brain (agenesis of the corpus callosum); Eye abnormalities known as " ... syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the ... Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasm in flexion, callosal agenesis, ocular abnormalities. ...

https://en.wikipedia.org/wiki/Aicardi_syndrome

This includes disorders such as HSAS, MASA syndrome, agenesis of the corpus callosum and spastic paraplegia. Lower limb ... Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1996). "CRASH syndrome: clinical spectrum of corpus callosum ... Mutations in the L1 protein are the cause of L1 syndrome, sometimes known by the acronym CRASH (corpus callosum hypoplasia, ...

https://en.wikipedia.org/wiki/L1_(protein)

Common structural brain abnormalities include agenesis of the corpus callosum, cerebral cortical atrophy, gait abnormalities, ...

https://en.wikipedia.org/wiki/1p36_deletion_syndrome

Associated with agenesis (absence) of the corpus callosum, intellectual disabilities are common among individuals with FG ... and partial or complete loss of the corpus callosum. About a third of reported cases of individuals with FG syndrome die in ... corpus callosum, anal, cardiac, skeletal) Hypotonia, constipation, or feeding problems Characteristic behavior (affable and ...

https://en.wikipedia.org/wiki/FG_syndrome

"Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis ... and lack the corpus callosum, another region of the brain involved in hemisphere connections. Eomesodermin/Tbr2 has also been ...

https://en.wikipedia.org/wiki/Eomesodermin

Agenesis of the corpus callosum has been found in between 5% and 17% of those with DWM. This does not seem to result in ... It cannot be used on those with brain abnormalities such as agenesis of the corpus callosum, due to the risk of CSF escaping to ... agenesis of the corpus callosum, skeletal abnormalities and heart defects. In 1985, it was also linked to DWM. The cerebellum ... other brain defects such as agenesis of the corpus callosum, skeletal abnormalities, an occipital encephalocele or ...

https://en.wikipedia.org/wiki/Dandy–Walker_malformation

Agenesis of the corpus callosum, in which there is a complete or partial absence of the corpus callosum. It occurs when the ... The fibers that would otherwise form the corpus callosum become longitudinally oriented within each hemisphere and form ... corpus callosum, the band of white matter connecting the two hemispheres in the brain, fails to develop normally, typically ...

https://en.wikipedia.org/wiki/Holoprosencephaly

2008 Jun;66(2B):418-9. PMID 18641886 "Subtotal corpus callosum agenesis with recurrent hyperhidrosis-hypothermia (Shapiro ... and agenesis of the corpus callosum with onset typically on adulthood. The disease affects about 50 people worldwide. The ...

https://en.wikipedia.org/wiki/Shapiro_syndrome

A recent study of individuals with agenesis of the corpus callosum suggests that the corpus callosum plays a vital role in ... Corpus callosum[edit]. Main article: Corpus callosum. The corpus callosum is the largest commissural tract in the human brain. ... Age-related decline in the commissural fiber tracts that make up the corpus callosum indicate the corpus callosum is involved ... The corpus callosum allows for communication between the two hemispheres and is found only in placental mammals (the eutherians ...

https://en.wikipedia.org/wiki/Commissural_fiber

... and agenesis of the corpus callosum. Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and ...

https://en.wikipedia.org/wiki/Congenital_disorder

Median cleft lip corpus callosum lipoma skin polyps. *Median nodule of the upper lip ... Lung agenesis heart defect thumb anomalies. *Lung herniation congenital defect of sternem ...

https://en.wikipedia.org/wiki/Wikipedia:WikiProject_Missing_encyclopedic_articles/Missing_diseases/7

... and agenesis of the corpus callosum. Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and ... agenesis of a limb, and inferior maxillary atresia with glossoptosis. Also, carbon monoxide exposure between days 35 and 40 of ...

https://en.wikipedia.org/wiki/Birth_defects

The corpus callosum of the brain is often undeveloped (called agenesis of the corpus callosum) and patients are known to have ...

https://en.wikipedia.org/wiki/Primordial_dwarfism

Bone dysplasia corpus callosum agenesis. *Bone dysplasia lethal Holmgren type. *Bone dysplasia Moore type ...

https://en.wikipedia.org/wiki/List_of_diseases_

Hydrocephalus obesity hypogonadism Hydrocephalus skeletal anomalies Hydrocephalus Hydrocephaly corpus callosum agenesis ... familial Hemi 3 syndrome Hemifacial atrophy agenesis of the caudate nucleus Hemifacial atrophy progressive Hemifacial ...

https://en.wikipedia.org/wiki/List_of_diseases_(H)

... with agenesis of the corpus callosum". Clinical Dysmorphology. 3 (4): 292-6. doi:10.1097/00019605-199410000-00003. PMID 7894733 ...

https://en.wikipedia.org/wiki/GAP-43

... agenesis of the corpus callosum, cerebellar hypoplasia).[17]. Microcephaly is determined by comparing head circumference (often ... agenesis of the corpus callosum and anterior commissure, neuronal migration errors, absent olfactory bulbs, meningomyelocele, ... Hyperactivity is associated with decreased size of the corpus callosum[74]. Functional difficulties may result from CNS damage ... The autopsy showed severe hydrocephalus, abnormal neuronal migration, and a small corpus callosum (which connects the two brain ...

https://en.m.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder

Talk:Agenesis of the corpus callosum. *Talk:Agnosia. *Talk:Agrammatism. *Talk:Agraphia ...

https://en.wikipedia.org/wiki/Category:Mid-importance_neurology_articles

Agenesis or hypoplasia of the corpus callosum and cerebellum have been found in at least one living affected individual and ... sometimes together with agenesis of the corpus callosum. Physical features are variable but usually include short stature, ...

https://en.wikipedia.org/wiki/Strømme_syndrome

... malformation Coronary artery aneurysm Coronary heart disease Coronavirus disease 2019 Corpus callosum agenesis Corpus callosum ... Calciphylaxis Calculi Calderon-Gonzalez-Cantu syndrome Calloso genital dysplasia Callus disease Calpainopathy Calvarial ... hypoplasia Cerebellar parenchymal degeneration Cerebelloolivary atrophy Cerebelloparenchymal disorder 3 Cerebellum agenesis ... Centrotemporal epilepsy Cephalopolysyndactyly Ceramidase deficiency Ceramide trihexosidosis Ceraunophobia Cerebellar agenesis ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

... hypoplasia of the corpus callosum and cerebellar hemispheres and loss of periventricular white matter. Most individuals with ... dysplastic kidney and agenesis of the lung and gallbladder have also been noted. Whole body musculoskeletal abnormalities have ...

https://en.wikipedia.org/wiki/ZTTK_syndrome

... and agenesis of the corpus callosum". Proceedings of the National Academy of Sciences of the United States of America. 96 (21 ...

https://en.wikipedia.org/wiki/NFIA

FAS has also been linked to brainstem and cerebellar changes, agenesis of the corpus callosum and anterior commissure, neuronal ... agenesis of the corpus callosum, cerebellar hypoplasia). Microcephaly is determined by comparing head circumference (often ... The autopsy showed severe hydrocephalus, abnormal neuronal migration, and a small corpus callosum (which connects the two brain ... Zimmerberg B, Mickus LA (1990). "Sex differences in corpus callosum: Influence of prenatal alcohol exposure and maternal ...

https://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder

Acardiac twin Achondrogenesis Achondroplasia Adrenal hematoma Agenesis of the corpus callosum Amniotic band syndrome Anal ... Omphalocele Osteogenesis imperfecta Pentalogy of Cantrell Polydactyly Polyhydramnios Posterior urethral valves Renal agenesis ...

https://en.wikipedia.org/wiki/List_of_fetal_abnormalities

... of cerebral commissures to treat epilepsy and callosal agenesis which is when individuals are born without a corpus callosum. ... Callosal syndrome, or split-brain, is an example of a disconnection syndrome from damage to the corpus callosum between the two ... He described the callosal syndrome, an example of a disconnection syndrome, which is a lesion in the corpus callosum that leads ... Dejerine in 1892 described specific symptoms resulting from a lesion to the corpus callosum that caused alexia without agraphia ...

https://en.wikipedia.org/wiki/Disconnection_syndrome

... syndrome is a genetic disorder that is characterized by Pierre Robin sequence and agenesis of the corpus callosum. Children ... Neurological abnormalities include defects of the corpus callosum, hypotonia, and hearing loss. The etiology of the disorder is ...

https://en.wikipedia.org/wiki/Toriello–Carey_syndrome

Polymicrogyria Agyria Macrogyria Microgyria Micropolygyria Grey matter heterotopia Agenesis of the corpus callosum Agenesis of ...

https://en.wikipedia.org/wiki/Neuronal_migration_disorder

Michelin tire baby syndrome Michels Caskey syndrome Michels syndrome Mickleson syndrome Micrencephaly corpus callosum agenesis ... cardiomyopathy Measles Meckel like syndrome Meckel syndrome Medeira Dennis Donnai syndrome Median cleft lip corpus callosum ... Müllerian agenesis) MSBD syndrome MTHFR deficiency Mucha-Habermann disease Muckle-Wells syndrome Mucoepithelial dysplasia ... Mucormycosis Mucosulfatidosis Muenke syndrome Mulibrey nanism Müller-Barth-Menger syndrome Müllerian agenesis Müllerian aplasia ...

https://en.wikipedia.org/wiki/List_of_diseases_(M)

In particular, she is involved in researching a phenomenon where the corpus callosum is absent (agenesis) or disformed ( ... "The Corpus Collosum". "Professor Linda Richards AO". Australian Disorders of the Corpus Callosum. "Nina Kondelos Award". ... Richards also acts as scientific advisor for the Australian Disorders of the Corpus Callosum. 2010 Nina Kondelos Prize for " ... "Balanced interhemispheric cortical activity is required for correct targeting of the corpus callosum". Neuron. 82 (6): 1289-98 ...

https://en.wikipedia.org/wiki/Linda_Richards_(neuroscientist)

... and agenesis or malformation of the corpus callosum. Classical lissencephaly can range from agyria to regional pachygyria and ... types are associated with corpus callosum agenesis or cerebellar hypoplasia while the cobblestone lissencephalies are ... corpus callosum aplasia, and decreased muscle tone and tendon reflexes. Over 90% of children affected with lissencephaly have ...

https://en.wikipedia.org/wiki/Pachygyria

"Isolated corpus callosum agenesis: a ten-year followup after prenatal diagnosis (how are the children without corpus callosum ... P. H. Tang, A. I. Bartha, M. E. Norton, A. J. Barkovich, E. H. Sherr, and O. A. Glenn, "Agenesis of the corpus callosum: an MR ... Complete Corpus Callosum Agenesis: Can It Be Mild?. Matteo Chiappedi, Anna Fresca, and Ilaria Maria Carlotta Baschenis ... Corpus callosum agenesis (CCA) is among the most common brain malformations observed in humans [1]. Its incidence varies as a ...

https://www.hindawi.com/journals/cripe/2012/752751/

Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus ... "Corpus callosum disorders". National Organization for Disorders of the Corpus Callosum. Retrieved April 11, 2010. Badano JL, ... was born with agenesis of the corpus callosum, along with macrocephaly and damage to the cerebellum. "ACC - What is agenesis of ... Agenesis of the corpus callosum is one such disease, part of an emerging class of diseases called ciliopathies. The underlying ...

https://en.wikipedia.org/wiki/Agenesis_of_the_corpus_callosum

Supporting those with Agenesis of the Corpus Callosum and Aicardi Syndrome. Corpal supports those affected by Agenesis of the ... Im Isla is going to to 6 2minute activities for Jacqui Latham because partial Agenesis of the corpus callosum ... Corpal - Supporting those with Agenesis of the Corpus Callosum and Aicardi Syndrome Registered charity number 1086019 ... Corpal - Supporting those with Agenesis of the Corpus Callosum and Aicardi Syndrome. ...

https://www.justgiving.com/corpal

Partial agenesis of the corpus callosum. *Abnormal corpus callosum (size, anatomy) As diagnosed by an expert ultrasound fetal ... Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum ... Infants With Agenesis of the Corpus Callosum (Dacci). The safety and scientific validity of this study is the responsibility of ... Agenesis of the Corpus Callosum Other: Psychometric scales for infants at 3 years of age Not Applicable ...

https://www.clinicaltrials.gov/ct2/show/NCT02267161

Home / For Patients and Families / Rare Disease Information / NIH GARD Report: White matter hypoplasia-corpus callosum agenesis ... Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with ... White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The ... NIH GARD Information: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome. This information is ...

https://rarediseases.org/gard-rare-disease/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome/

Synonyms: corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; Graham-Cox syndrome; mental ... corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (DOID:0060816) Alliance: disease page Synonyms: ... Definition: A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual ... corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; Graham-Cox syndrome; mental ...

http://www.informatics.jax.org/disease/300472

Synonyms: Andermann syndrome; Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome ... agenesis of the corpus callosum with peripheral neuropathy (DOID:0090003) Alliance: disease page Synonyms: Andermann syndrome; ... Charlevoix disease; corpus callosum agenesis-neuronopathy syndrome Alt IDs: OMIM:218000, ICD10CM:G60.0, ORDO:1496 Definition: A ... variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in ...

http://www.informatics.jax.org/disease/218000

... complete agenesis of the corpus callosum; pAgCC=partial agenesis of the corpus callosum; bars represent standard error. ... Individuals with agenesis of the corpus callosum (AgCC) offer unique insights regarding the cognitive skills that depend ... Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum.. Marco ... Therefore, while individuals with agenesis of the corpus callosum show real deficits on tasks of executive function, this ...

https://www.ncbi.nlm.nih.gov/pubmed/22390821/

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC or ACCPN), also known as Andermann ... Retrieved from "https://www.SNPedia.com/index.php?title=Agenesis_of_the_Corpus_Callosum_with_Peripheral_Neuropathy&oldid=936227 ... and amyotrophy and variable degrees of dysgenesis of the corpus callosum.NIH ...

https://www.snpedia.com/index.php/Agenesis_of_the_Corpus_Callosum_with_Peripheral_Neuropathy

What is Corpus callosum agenesis? Meaning of Corpus callosum agenesis as a legal term. What does Corpus callosum agenesis mean ... Definition of Corpus callosum agenesis in the Legal Dictionary - by Free online English dictionary and encyclopedia. ... Corpus callosum agenesis legal definition of Corpus callosum agenesis https://legal-dictionary.thefreedictionary.com/Corpus+ ... corpus. (redirected from Corpus callosum agenesis). Also found in: Dictionary, Thesaurus, Medical, Financial, Encyclopedia. ...

https://legal-dictionary.thefreedictionary.com/Corpus+callosum+agenesis

NINDS Agenesis of the Corpus Callosum Information Page www.ninds.nih.gov/health_and _medical/disorders/agenesis_doc.htm ... Handbook of Genetic Counseling/Hypoplasia - Agenesis of the Corpus Callosum. From Wikibooks, open books for an open world ... underdevelopment (hypoplasia) complete absence (agenesis) of the CC. Corpus collosum[edit]. *The area of the brain (large fiber ... Agenesis of the Corpus Collosum. Mental Retardation and Congenital Malformations of the Central Nervous System. Warkany, J, ...

https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hypoplasia_-_Agenesis_of_the_Corpus_Callosum

It has been suggested that developmental defects of the corpus callosum may be more frequently encountered in patients with ... Dysgenesis of the corpus callosum has been recognized as a marker for aberrant development of the central nervous system. ... Dysgenesis of the corpus callosum has been recognized as a marker for aberrant development of the central nervous system. It ... Corpus Callosum / abnormalities*, pathology. Female. Humans. Magnetic Resonance Imaging. Male. Models, Biological. ...

http://www.biomedsearch.com/nih/Agenesis-corpus-callosum-cerebral-anomalies/17988254.html

... agenesis of the corpus callosum, hydrocephalus and choanal atresia.... ... All had an associated agenesis of the corpus callosum.. Key words. Median cleft face syndrome Frontonasal dysplasia ... François J, Eggermont E, Evens L, Logghe N, De Bock F (1973) Agenesis of the corpus callosum in the median facial cleft ... Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal ...

https://link.springer.com/article/10.1007/BF00716480

Agenesis Corpus Callosum. Agenesis Corpus Callosum. Description. Agenesis of the corpus callosum (ACC) is a rare congenital ... Click here for the latest Australian research papers on Agenesis Corpus Callosum. ... abnormality in which there is a partial or complete absence of the corpus callosum. This is the area of the brain which ...

http://brainfoundation.org.au/disorders/agenesis-corpus-callosum

Prevalence and incidence statistics for Micrencephaly corpus callosum agenesis covering estimated populations and diagnosis ... About prevalence and incidence of Micrencephaly corpus callosum agenesis. *Micrencephaly corpus callosum agenesis: Introduction ... Treatments for Micrencephaly corpus callosum agenesis. *Doctors and Medical Specialists for Micrencephaly corpus callosum ... They list Micrencephaly corpus callosum agenesis as a "rare disease". More information about Micrencephaly corpus callosum ...

https://www.rightdiagnosis.com/m/micrencephaly_corpus_callosum_agenesis/prevalence.htm

Note the absence of the corpus callosum, with the ventricles taking on the appearance of a moose head, with the third ventricle ...

https://radiopaedia.org/cases/corpus-callosum-agenesis-illustrations

The corpus callosum is absent.. Axial images: The bodies of lateral venticles have a parallel orientation. Fibers of white ... These are considered as the fibers that meant to make corpus callosum. The posterior parts of lateral ventricles are enlarged; ...

https://radiopaedia.org/cases/agenesis-of-the-corpus-callosum-3

Medical article NINDS Agenesis of the Corpus Callosum Information Page NINDS including all symptom, diagnosis, misdiagnosis, ... Conditions: Agenesis of the Corpus Callosum What is Agenesis of the Corpus Callosum?. Agenesis of the corpus callosum (ACC) is ... of the corpus callosum. The corpus callosum is the area of the brain which connects the two cerebral hemispheres. In most ... Article title: NINDS Agenesis of the Corpus Callosum Information Page: NINDS ...

http://www.rightdiagnosis.com/artic/ninds_agenesis_of_the_corpus_callosum_information_page_ninds.htm

The National Organization of Disorders of the Corpus Callosum provides a list of FAQs about disorders of the corpus callosum. ... corpus callosum agenesis - spastic quadriparesis Title Other Names:. X-linked intellectual disability-corpus callosum agenesis- ... corpus callosum agenesis - spastic quadriparesis ... X-linked intellectual disability - corpus callosum agenesis - ...

https://rarediseases.info.nih.gov/diseases/12489/x-linked-intellectual-disability---corpus-callosum-agenesis---spastic-quadriparesis

... answered by our Genetic and Rare Diseases Information Specialists for White matter hypoplasia-corpus callosum agenesis- ... The National Organization of Disorders of the Corpus Callosum provides a list of FAQs about disorders of the corpus callosum. ... White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome Title Other Names:. Curatolo Cilio Pessagno ... Corpus callosum agenesis is one of the more frequent congenital. malformations. It can be either asymptomatic or associated ...

https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome

A case of agenesis of the corpus callosum accompanied by a ruptured azygos anterior cerebral artery aneurysm and lipoma--a case ... A case of agenesis of the corpus callosum accompanied with a ruptured azygos anterior cerebral artery aneurysm and a lipoma a ... Agenesis of the corpus callosum associated with an azygos anterior cerebral artery, a lipoma and porencephalic cyst. South ... Interhemispheric lipoma associated with agenesis of corpus callosum in an infant: case report. Medical Ultrasonography 12(3): ...

https://eurekamag.com/research/039/031/039031912.php

... and corpus callosum agenesis. This mutation affects an invariant residue in the homeodomain of VAX1 and was absent from 96 ... VAX1 Mutation Associated with Microphthalmia, Corpus Callosum Agenesis, and Orofacial Clefting: The First Description of a VAX1 ... Home , VAX1 Mutation Associated with Microphthalmia, Corpus Callosum Agenesis, and Orofacial Clefting: The First Description of ... and corpus callosum agenesis. This mutation affects an invariant residue in the homeodomain of VAX1 and was absent from 96 ...

https://infoscience.epfl.ch/record/175990

Corpus callosum agenesis from asymptomatic to mild or severe neurodevelopmental disorders. However, few cases have been ... The corpus callosum is the main pathway connect the interhemispheric communication. ... agenesis of the corpus callosum; widened lateral ventricle. agenesis of corpus callosum; Morphological changes of lateral ... agenesis of the corpus callosum; widened lateral ventricle. agenesis of corpus callosum; Morphological changes of lateral ...

https://www.researchsquare.com/article/rs-51748/v1

agenesis of the corpus callosum. AS; Aicardi syndrome. CNS; central nervous system. DTI; diffusion tensor imaging. GA; ... Agenesis of Corpus Callosum and Associated Malformations. From Aicardi to Zellweger Syndromes. Jin S. Hahn, Jane MacLean and ... Agenesis of Corpus Callosum and Associated Malformations Message Subject (Your Name) has sent you a message from American ... Agenesis of the corpus callosum (ACC) is one of the more common brain malformations encountered by neonatologists and ...

https://neoreviews.aappublications.org/content/13/4/e224

AgenesisDysplasiaCorpus callosumBrain developmentNeuroradiology. Background. The corpus callosum (CC) is the primary neuronal ... Partial agenesis is the absence of some but not all components of the corpus callosum. Hypoplastic corpus callosum is a thin ... Sagittal MRI images displaying classes and subclasses of corpus callosum abnormalities. Classes of corpus callosum ... displayed complete agenesis of the corpus callosum with other abnormalities, while only 18 (9 %) displayed complete agenesis ...

https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-015-0382-5

Corpus Callosum Agenesis. Introduction. Agenesis of corpus callosum (ACC) [OMIM 217990] is one of the most common congenital ... has been described in agenesis of corpus callosum. Partial agenesis of corpus callosum has correlations with sigmoid bundles ... Depending on the part of corpus callosum affected, agenesis of the corpus callosum may classify into one of two varieties:. * ... As a rule of thumb, primary agenesis of corpus callosum (total agenesis) can be excluded by the presence of the rostrum. One ...

https://www.statpearls.com/kb/viewarticle/20028/

Isolated agenesis of the corpus callosum is not innocuous, and patients with this defect require a strict neurocognitive follow ... Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion ... An 8-year-old Hispanic boy with total agenesis of the corpus callosum attended for medical follow-up. The defect was identified ... Here, we report an illustrative case of a school-age child with isolated agenesis of the corpus callosum and normal ...

https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-020-2359-2

... with lateral ventricular choroid plexus lipomas and interhemispheric lipoma associated with agenesis of the corpus callosum. ... Agenesis of corpus callosum and intraventricular lipomas.. @article{Vade1992AgenesisOC, title={Agenesis of corpus callosum and ... Agenesis of the Corpus Callosum Associated with a large Ocular Lipodermoid in a Neonate : A Case Report and Literature Review. ... Lipomas of corpus callosum. Gemma Taglialatela, Rosario Galasso, +3 authors Luigi Galasso ...

https://www.semanticscholar.org/paper/Agenesis-of-corpus-callosum-and-intraventricular-Vade-Horowitz/9776995c99a924ab7538773e7b0833b14f23b094

Corpus Callosum Agenesis - Spastic Quadriparesis 52 X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic ... Corpus Callosum Agenesis - Spastic Quadriparesis, is also known as x-linked intellectual disability-corpus callosum agenesis- ... Human phenotypes related to X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis:. 31 #. ... MalaCards integrated aliases for X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis:. Name: X- ...

https://www.malacards.org/card/x_linked_intellectual_disability_corpus_callosum_agenesis_spastic_quadriparesis

Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human. Richards, L. J., Plachez, C. ... Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human ... Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human. Clinical Genetics, 66 4: 276- ... The development of the corpus callosum depends on a large number of different cellular and molecular mechanisms. These include ...

https://espace.library.uq.edu.au/view/UQ:111757

It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain, in the embryo is disrupted. (wikipedia.org)
The literature reviewed here suggested that patients with agenesis of the corpus callosum require a strict neurocognitive follow-up during postnatal life, as they may present neuropsychological deficits during adolescence, when development of the corpus callosum is completed and there is maximum reliance on this structure. (biomedcentral.com)
Richards, L. J., Plachez, C. and Ren, T. (2004) Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human. (edu.au)
The development of the corpus callosum depends on a large number of different cellular and molecular mechanisms. (edu.au)
Data in humans and in mice suggest the possibility that different mechanisms may regulate the development of the corpus callosum across its rostrocaudal and dorsoventral axes. (edu.au)
Structural abnormalities (cysts) that interfere with normal development of the corpus callosum. (ourmed.org)
Problems during development of the corpus callosum can range from underdevelopment, where there are fewer than normal numbers of fibers connecting the two sides of the brain (partial agenesis) to the complete absence all connections (complete agenesis). (ohiofetalmedicine.org)
We propose ZNF148 as a gene involved in a newly described ID syndrome with a recurrent phenotype and postulate that the ZNF148 is a hitherto unrecognized but crucial transcription factor in the development of the corpus callosum. (nih.gov)

Fetal neuroimaging advances have allowed prenatal detection of callosal agenesis and associated anomalies in the brain and other organs. (aappublications.org)
This article includes discussion of agenesis of the corpus callosum, callosal agenesis, agenesis of the corpus callosum, hypoplasia of the corpus callosum, and agenesis and hypoplasia of the corpus callosum. (medlink.com)
The image illustrates the dramatic lack of inter hemispheric connections in callosal agenesis. (freerepublic.com)
We aim to report a case of corpus callosal agenesis (CCA) associated with mental retardation and hyperactivity. (who.int)
Loss of Nf2 causes malformation of midline guideposts and Slit2 upregulation, resulting in callosal agenesis. (biologists.org)
Chorioretinal lacunae  Criteria that are highly suggestive of Aicardi syndrome  Partial or complete callosal agenesis  Cortical dysplasia  Gross asymmetry of the hemispheres  Periventricular or subcortical heterotopias  Cysts of the choroid plexus or around the third ventricle is highly suggestive of AS DIAGNOSIS: DIAGNOSIS: AICARDI SYNDROME ASSOCIATED WITH MULTIPLE CORTICAL DYSPLASIAS THAT INCLUDE HEMIMEGALENCEPHALY, LISSENCEPHALY, HETEROTOPIAS, AND SEPTO-OPTIC DYSPLASIA. (slideshare.net)

Corpus callosum agenesis is a relatively common brain malformation. (hindawi.com)
In addition to agenesis, other degrees of callosal defects exist, including hypoplasia (underdevelopment or thinness), hypogenesis (partial agenesis) or dysgenesis (malformation). (wikipedia.org)
Agenesis of the corpus callosum is the most frequent brain malformation. (clinicaltrials.gov)
Corpus callosum malformation and dysfunction are increasingly recognized causes of cognitive and behavioral disability. (nih.gov)
Agenesis of the corpus callosum (ACC) is a developmental brain malformation associated with a wide spectrum of structural brain abnormalities and genetic loci. (biomedcentral.com)
Thus, physicians require a better knowledge of the cognitive features of agenesis of the corpus callosum to improve their approach to this cerebral malformation. (biomedcentral.com)
Agenesis of the corpus callosum (AgCC) is a rare brain malformation that can occur isolated or associated with other anatomical defects as part of a complex congenital syndrome [ 1 ]. (biomedcentral.com)
Raybaud C. The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation. (sickkids.ca)
Dysgenesis is a broad term for any malformation of the corpus callosum that is not a complete agenesis. (ourmed.org)
Agenesis of the corpus callosum (ACC) is a congenital malformation that can occur in isolation or in association with other neurological conditions. (peertechz.com)
Developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation resulting from disruption of corpus callosum formation, a structure that is crucial for the transfer and integration of information, including attention processes, across the brain. (maastrichtuniversity.nl)
Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus callosum, such as Aicardi syndrome, as well as two additional brain malformations, polymicrogyria and Dandy-Walker malformation. (clinicaltrials.gov)
To participate in the study, you will be asked to provide a copy of the magnetic resonance imaging (MRI) documenting Agenesis Corpus Callosum (ACC), Polymicrogyria (PMG), or Dandy-Walker malformation (DWM), clinical information, and blood samples from the affected individual and from the parents. (clinicaltrials.gov)
Progress in neuroimaging has revealed that the central nervous system malformation in AS is not limited to agenesis of the corpus callosum but consists of a complex of abnormalities characterized by severe neuronal migration defects with periventricular and subcortical heterotopias, cortical polymicrogyria, and a tendency toward the development of cystic formations in the choroid plexuses and in other parts of the brain (3-5). (slideshare.net)

The objectives of the present study were to determine the prevalence of developmental defects of the corpus callosum in patients attending a genetics-metabolic disorders clinic, to describe the spectrum of abnormalities in brain development in patients with confirmed inborn errors of metabolism and abnormalities of the corpus callosum as ascertained by neuroimaging and/or postmortem studies. (biomedsearch.com)
The routine prenatal ultrasound examination showed abnormal morphology of corpus callosum in fetus 1, dysplasia of the corpus callosum in fetus 3, the corpus callosum absence in fetus 2 and fetus 4, and fetus 4 also had cardiac abnormalities. (researchsquare.com)
The genetic mechanism of corpus callosum agenesis is variably complex, and its clinical phenotype may occur either alone or in association with other abnormalities. (researchsquare.com)
To characterize the diverse callosal morphologies and malformations of brain development associated with ACC, we report on the neuroimaging findings of 201 individuals diagnosed with corpus callosal abnormalities. (biomedcentral.com)
Forty-one (20 %) displayed complete agenesis of the corpus callosum with other abnormalities, while only 18 (9 %) displayed complete agenesis without associated brain abnormalities. (biomedcentral.com)
In contrast, hippocampal abnormalities, colpocephaly, and Probst bundles were significantly more frequent in complete agenesis compared to hypoplasia or dysplasia group. (biomedcentral.com)
Collectively, our results underscore the broad diversity of morphological variants of the corpus callosum and associated brain abnormalities in individuals with ACC. (biomedcentral.com)
Agenesis of corpus callosum (ACC) [OMIM 217990] is one of the most common congenital cerebral malformations which is morphologically the complete or partial absence of corpus callosum, and not defined by functional or behavioral abnormalities (as in autism). (statpearls.com)
Agenesis of the corpus callosum can present as an isolated condition or associated with other cerebral abnormalities. (statpearls.com)
Al-Hashim AH, Blaser S, Raybaud C, MacGregor D. Corpus callosum abnormalities: neuroradiological and clinical correlations. (sickkids.ca)
Many people with agenesis of the corpus callosum do not have any symptoms or the symptoms may range from subtle or mild to severe, depending on whether and which associated brain abnormalities are present. (cdc.gov)
The life expectancy for someone with corpus callosum agenesis depends on the presence of other abnormalities. (cdc.gov)
We demonstrated widespread WM abnormalities in BD and highlighted that altered WM connectivity within the corpus callosum and the cingulum are strongly associated with BD. (nature.com)
DISCUSSION DISCUSSION: The Aicardi syndrome (AS) is classically defined as a triad of abnormalities that includes agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae (1,2). (slideshare.net)

Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. (wikipedia.org)
All 19 (100%) expressed variable degrees of hypoplasia, complete or partial agenesis (ACC). (biomedsearch.com)
Partial agenesis is the absence of some but not all components of the corpus callosum. (biomedcentral.com)
Partial agenesis (hypogenesis or dysgenesis), in which only the splenium and/or rostrum are absent. (statpearls.com)
Partial agenesis of corpus callosum has correlations with 'sigmoid bundles,' which asymmetrically connect the frontal lobe with the contralateral occipitoparietal cortex. (statpearls.com)
The defect is "complete" when total absence of the corpus callosum (CC) occurs or "partial" when only certain regions of the structure are formed. (biomedcentral.com)
In the case reported by Baker and Graves the agenesis was partial. (jamanetwork.com)
Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. (sickkids.ca)
The types of agenesis of the corpus callosum are: complete agenesis of the corpus callosum (ACC), partial ACC, hypoplasia of the corpus callosum, and dysgenesis of the corpus callosum. (ourmed.org)
In partial ACC, the corpus callosum began to develop, but does not complete development. (ourmed.org)
Since the corpus callosum develops from front to back, the part of the corpus callosum that is present in partial ACC usually will be toward the front of the brain, with the back portion missing. (ourmed.org)
Partial ACC includes the entire range of partial absence, from absence of only a small portion of callosal fibers to absence of most of the corpus callosum. (ourmed.org)
Thus, partial ACC and hypoplasia of the corpus callosum would be forms of dysgenesis, as would any other form of inadequate callosal development. (ourmed.org)
Disc1 tr transgenic mice display enlarged lateral ventricles, reduced cerebral cortex, partial agenesis of the corpus callosum, and thinning of layers II/III with reduced neural proliferation at midneurogenesis. (jneurosci.org)
The brain computed tomography scan and the magnetic resonance showed the lipoma and the partial agenesis of the corpus callosum. (ijmedicalimaging.org)
Complete or partial (usually of the posterior part) absence of the corpus callosum in a mid-sagittal view of the brain. (fetalmedicine.com)
Defects in callosal neuron specification and production, midline patterning, guidepost formation or guidance cue expression and reception might result in complete or partial agenesis of the corpus callosum. (biologists.org)
The MRI revealed partial agenesis of the corpus callosum , bilateral hypoplastic hippocampi but bilaterally intact amygdala. (symptoma.com)
Partial agenesis of the corpus callosum , hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome. (symptoma.com)
Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. (symptoma.com)
Imaging of his brain revealed partial agenesis of the corpus callosum (ACC). (symptoma.com)
An uncommon association of infantile spasms, septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst is described in a child. (symptoma.com)
It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. (wikipedia.org)

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC or ACCPN), also known as Andermann Syndrome, a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy and variable degrees of dysgenesis of the corpus callosum. (snpedia.com)
Dysgenesis of the corpus callosum has been recognized as a marker for aberrant development of the central nervous system. (biomedsearch.com)
In patients with inborn errors of metabolism, dysgenesis of the corpus callosum serves as a marker for other developmental defects within the nervous system. (biomedsearch.com)
In this condition, there may be atypical callosal dysgenesis, in which anterior parts of the corpus callosum are absent. (statpearls.com)
Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features. (sickkids.ca)
Dysgenesis means that the corpus callosum developed, but developed in some incomplete or malformed way. (ourmed.org)
Griebel ML, Williams JP, Russell SS, Spence GT, Glasier CM. Clinical and developmental findings in children with giant interhemispheric cysts and dysgenesis of the corpus callosum. (ijmedicalimaging.org)
People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum ). (medlineplus.gov)
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. (nature.com)
Individuals with agenesis or dysgenesis of the corpus callosum, polymicrogyria, or cerebellar hypoplasia. (clinicaltrials.gov)

Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. (rarediseases.org)
A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (jax.org)
Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism. (biomedsearch.com)
73 Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia: An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. (malacards.org)
Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia, also known as birk-flusser syndrome , is related to agenesis of the corpus callosum with peripheral neuropathy and aicardi syndrome . (malacards.org)
An important gene associated with Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia is FRMD4A (FERM Domain Containing 4A). (malacards.org)
Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. (ijmedicalimaging.org)
Corpus callosum and limbic system: neuroanatomic MR evaluation of developmental anomalies. (ijmedicalimaging.org)
Brain anomalies and other malformations associated with ACC include lipoma of the corpus callosum, cerebellar hypoplasia, Dandy-Walker syndrome, hydrocephalus due to obstruction of the foramen of Monro or aqueduct stenosis, interhemispheric cyst, porencephalic cyst, and neuronal migration disorders [2]. (peertechz.com)
Aims: Anomalies of the corpus callosum have been associated with varied brain and somatic malformations. (who.int)
Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies. (nature.com)
We report on the clinical and molecular cytogenetic findings in a girl with minor anomalies, midline defects including prenatally ascertained agenesis of the corpus callosum, epilepsy and developmental delay. (unibas.ch)
C) demonstrated several structural brain anomalies, including agenesis of corpus callosum. (nih.gov)

Note the absence of the corpus callosum, with the ventricles taking on the appearance of a moose head, with the third ventricle representing the moose's actual head, and the lateral ventricles the horns. (radiopaedia.org)
Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. (sickkids.ca)
Thus, they cannot compensate completely for the absence of the corpus callosum. (ourmed.org)
Although affected patients may exhibit few obvious neurologic functional deficits, the absence of the corpus callosum, a structure responsible for interhemispheric connections, does carry consequences with respect to information processing and language functions. (medlink.com)
Agenesis=Absence or incomplete development of an organ or body part. (blogspot.com)
ACC may be found during routine prenatal ultrasound if the absence of the corpus callosum is noticeable. (ohiofetalmedicine.org)
BTBR mice exhibit a 100% absence of the corpus callosum and a severely reduced hippocampal commissure. (jax.org)

IMSEAR at SEARO: Association of corpus callosum agenesis with mental retardation and attention deficit hyperactivity disorder. (who.int)
Presentation of case: We report case of a 7 year old boy having CCA, abnormal facial morphological features, mental retardation and attention deficit hyperactivity disorder (ADHD), devoid of any chromosomal rearrangements or somatic malformations known to be associated with corpus callosal changes. (who.int)
of corpus callosum , polysyndactyly and mental retardation. (symptoma.com)
The patient was a 10-year-old boy with symptoms like, mild mental retardation, bilateral adducted thumbs and corpus callosum hypoplasia. (wikipedia.org)

The National Organization of Disorders of the Corpus Callosum provides a list of FAQs about disorders of the corpus callosum. (nih.gov)
Corpus callosum agenesis from asymptomatic to mild or severe neurodevelopmental disorders. (researchsquare.com)
That just should not happen and I hope that more and more medical professionals will become better educated about Agenesis of the Corpus Callosum and other corpus callosum disorders and think before they attempt to speak the future of that little baby or child. (blogspot.com)
Our lab has shown that de novo and inherited genetic events play an important role in causing disorders of cerebral development, specifically focusing on patients with agenesis of the corpus callosum (ACC). (ucsf.edu)

Additional common features include agenesis of the corpus callosum, sensorineural hearing loss, intellectual disability, and congenital diaphragmatic hernia and/or omphalocele. (nih.gov)

Corpus callosum agenesis (CCA) is among the most common brain malformations observed in humans [ 1 ]. (hindawi.com)
Corpus callosum agenesis is one of the more frequent congenital malformations. (rarediseases.org)
François J, Eggermont E, Evens L, Logghe N, De Bock F (1973) Agenesis of the corpus callosum in the median facial cleft syndrome and associated ocular malformations. (springer.com)
Agenesis of the corpus callosum (ACC) is one of the more common brain malformations encountered by neonatologists and pediatricians. (aappublications.org)
We confirmed 201 individuals meeting criteria and used magnetic resonance imaging to characterize morphological variants of the corpus callosum and associated brain malformations. (biomedcentral.com)
Agenesis of the corpus callosum is one of the most common human brain malformations. (statpearls.com)
Peripersonal spatial attention in children with spina bifida: associations between horizontal and vertical line bisection and congenital malformations of the corpus callosum, midbrain, and posterior cortex. (sickkids.ca)
It may also occur as part of other diseases such as Aicardi syndrome , (which only affect girls, includes corpus callosum agenesis, and other problems) or Andermann syndrome or it can also be associated with malformations in other parts of the body, such as midline facial defects. (cdc.gov)
The newly described ZNF148-associated syndrome is characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. (nih.gov)

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. (rarediseases.org)
Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion of affected individuals develop normal intelligence. (biomedcentral.com)
Copy number variations found in patients with a corpus callosum abnormality and intellectual disability. (nature.com)

The corpus callosum is the main pathway connect the interhemispheric communication. (researchsquare.com)
Interhemispheric arachnoid cyst with agenesis of corpus callosum. (bvsalud.org)
The emerging view is that the corpus callosum consists of many parallel interhemispheric channels for communication and control, and that every transfer channel is context-dependent and modulated by attention. (mit.edu)

Genetic factors: Agenesis of the corpus callosum often correlates with several aneuploidy and non-aneuploidy syndromes. (statpearls.com)
The complex developmental processes required for formation of the corpus callosum may provide some insight into why such a large number of human congenital syndromes are associated with agenesis of this structure. (edu.au)
Agenesis of the corpus callosum may occur as an isolated event or as part of dozens of developmental and dysmorphic syndromes. (medlink.com)
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. (nature.com)

Fetal ultrasound can detect agenesis of the corpus callosum as early as the 16th week of gestation. (statpearls.com)
Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two hemispheres of the brain (the corpus callosum) is partially or completely absent due to an abnormality of development during the fetal period. (ourmed.org)
When one of these factors interfere with development of the fetal brain (between the fifth and sixteenth week of pregnancy), agenesis of the corpus callosum may result. (ourmed.org)
Achiron R, Achiron A. Development of the human fetal corpus callosum: a high-resolution, cross-sectional sonographic study. (nature.com)

It has been suggested that developmental defects of the corpus callosum may be more frequently encountered in patients with inborn errors of metabolism. (biomedsearch.com)

Hypoplastic corpus callosum is a thin but structurally intact corpus callosum. (biomedcentral.com)
The corpus callosum is markedly hypoplastic and deficient. (slideshare.net)

The corpus callosum is the area of the brain which connects the two cerebral hemispheres. (rightdiagnosis.com)
Namely, she had an agenesis of the corpus callosum, an azygos anterior cerebral artery, an aneurysm and a lipoma. (eurekamag.com)
There are some reports in which an agenesis of the corpus callosum is accompanied with a lipoma and an azygos anterior cerebral artery is accompanied with an aneurysm. (eurekamag.com)
But a case of agenesis of the corpus callosum with an azygos anterior cerebral artery was rarely reported. (eurekamag.com)
The corpus callosum, the largest fiber tract in the brain, connects to the 2 cerebral hemispheres in order to facilitate the integration of motor and sensory information from the 2 sides of the body. (medlink.com)
The corpus callosum connects cerebral hemispheres and is the largest axon tract in the mammalian brain. (biologists.org)

Agenesis of the corpus callosum can occur isolated or as part of a complex congenital syndrome. (biomedcentral.com)
In cases where agenesis of the corpus callosum occurs as part of a syndrome or larger malformative cluster, the clinical scenario is usually dominated by the primary condition. (medlink.com)
A de novo 5.45 Mb deletion almost exclusively located within 1q42 was found to cause this phenotype, which shows significant overlap with the microdeletion 1q41q42 syndrome reported in a few patients except for the agenesis of the corpus callosum. (unibas.ch)

Hypoplasia of the corpus callosum exists when all the components of the callosum are present, but the structure is thinner than normal. (medlink.com)
Finally, we observed hypoplasia of the corpus callosum in both mouse mutants and a marked decrease in axonal tracts serving the auditory cortex in only the general deletion mutant. (jneurosci.org)
For example, when bred to mice carrying Tg(Syn1-cre)671 Jxm (see Stock No. 003966 ), Cre recombinase expression in neuronal cells results in hyperactivity, reduced pain sensitivity, axonal degeneration, axon swelling, and hypoplasia of the corpus callosum. (jax.org)

As a rule of thumb, primary agenesis of corpus callosum (total agenesis) can be excluded by the presence of the rostrum. (statpearls.com)
An 8-year-old Hispanic boy with total agenesis of the corpus callosum attended for medical follow-up. (biomedcentral.com)
At the age of 4, he was subjected to a control brain magnetic resonance imaging that showed total agenesis of the corpus callosum and colpocephaly. (biomedcentral.com)

Exams of the brain showed poor development (hypoplasia) of the pale part of the brain known as white matter , and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). (rarediseases.org)
Children born to women treated for hypothyroidism during pregnancy show abnormal corpus callosum development. (sickkids.ca)

The study included prenatal diagnosis of 4 fetuses in whom prenatal ultrasound showed corpus callosum abnormality, isolated or associated with other central nervous lesions. (researchsquare.com)
Agenesis of the corpus callosum can be diagnosed in the fetus by ultrasound or Magnetic resonance imaging (MRI) of the head. (ourmed.org)

The purpose of this study is to assess the neurological development at three years of age of children born after prenatal diagnosis of 'isolated' agenesis of the corpus callosum. (clinicaltrials.gov)
The term 'incidence' of Micrencephaly corpus callosum agenesis refers to the annual diagnosis rate, or the number of new cases of Micrencephaly corpus callosum agenesis diagnosed each year. (rightdiagnosis.com)
However, few cases have been previously reported in the literature on prenatal diagnosis between corpus callosum agenesis and chromosomes abnormality. (researchsquare.com)
To provide a better understanding of the chromosomal variation and the corpus callosum agenesis in prenatal diagnosis, we present our study on prenatal diagnosis of four corpus callosum structural abnormal fetuses by CMA. (researchsquare.com)
Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age? (nature.com)
Sotiriadis A, Makrydimas G. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. (nature.com)

The corpus callosum is absent. (radiopaedia.org)
Corpus callosum agenesis is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum ) is partially or completely absent. (cdc.gov)

Precontrast MR T1 images showing a huge right sided intraventricular /parenchymal cyst associated with agenesis of the septum pellucidum. (slideshare.net)
Agenesis of the corpus callosum & Cyst on baby's brain (24 weeks pregnant). (mumsnet.com)

Agenesis of the Corpus Collosum. (wikibooks.org)
The result obviously being agensis of the corpus collosum. (careplace.com)

Corpus callosum is the largest white matter structure containing 200 million axons, [1] connecting the two hemispheres of the brain. (statpearls.com)
The corpus callosum is indicated in red, fading as the fibers enter the hemispheres in order to suggest that they continue on. (freerepublic.com)
Study of the corpus callosum, the bands of tissue uniting the brain's two hemispheres, is central to understanding neuroanatomy, neurophysiology, and behavior. (mit.edu)

Anterior and posterior commissures in agenesis of the corpus callosum: Alternative pathways for attention processes? (maastrichtuniversity.nl)
This study aimed to investigate previously proposed candidates for alternative inter-hemispheric pathways in AgCC by examining (1) white matter volume and microstructure of the anterior and posterior commissures in children with AgCC compared to typically developing controls (TDC), and (2) in children with AgCC, examine the associations of white matter volume and microstructure of the anterior and posterior commissures and any remaining corpus callosum with attention processes. (maastrichtuniversity.nl)

This study revealed the microabnormalities of multiple chromosomes are related to the corpus callosum abnormality. (researchsquare.com)
Hypertelorism is the most common recognizable facial abnormality in patients with agenesis of the corpus callosum who have abnormal facial features. (medlink.com)
This represents a global defect of brain development, whereas agenesis of the corpus callosum may be an isolated abnormality. (medlink.com)
Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. (nature.com)

Brain axial computed tomography showing suspicious agenesis of the corpus callosum (ACC) (arrow) and dilation of the atrium and occipital horns of both lateral ventricles (colpocephaly, arrowhead). (peertechz.com)

A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. (jax.org)

The term 'prevalence' of Micrencephaly corpus callosum agenesis usually refers to the estimated population of people who are managing Micrencephaly corpus callosum agenesis at any given time. (rightdiagnosis.com)

Pascual-Castroviejo I, Pascual-Pascual SI, Pérez-Higueras A (1986) Fronto-nasal dysplasia and lipoma of the corpus callosum. (springer.com)
The agenesis of the corpus callosum and lipoma is a very rare association. (ijmedicalimaging.org)
Mehta NM, Hartnoll G. Congenital CMV with callosal lipoma and agenesis. (ijmedicalimaging.org)

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients. (nature.com)

Agenesis of corpus callosum and intraventricular lipomas. (semanticscholar.org)

Raybaud C. Corpus Callosum: Molecular Pathways in Mice and Human Dysgeneses. (sickkids.ca)

Complete Corpus Callosum Agenesis: Can It Be Mild? (hindawi.com)
We present the case of a girl with a complete agenesis of the corpus callosum discovered at birth. (hindawi.com)
Complete agenesis (CAG) is a callosal variant lacking all components of the corpus callosum. (biomedcentral.com)
Archambault, 3 in 1911, described a case of complete agenesis. (jamanetwork.com)
MRI images from a neurotypical control (left) and an adult with complete agenesis of the corpus callosum (right). (freerepublic.com)

Anatomy19

Organisms2

Diseases32

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment15

Psychiatry and Psychology5

Phenomena and Processes11

Information Science3

Named Groups1

Health Care1

Callosal and cortical contribution to procedural learning. (1/203)

Abnormalities in neuronal process extension, hippocampal development, and the ventricular system of L1 knockout mice. (2/203)

Reduction cranioplasty for macrocephaly. Two case reports. (3/203)

Dissociation of the pathways mediating ipsilateral and contralateral motor-evoked potentials in human hand and arm muscles. (4/203)

The homeodomain protein vax1 is required for axon guidance and major tract formation in the developing forebrain. (5/203)

Neuropathological abnormalities of the corpus callosum in schizophrenia: a diffusion tensor imaging study. (6/203)

Parallel visuomotor processing in the split brain: cortico-subcortical interactions. (7/203)

Agenesis of corpus callosum - a rare case. (8/203)

Corpus Callosum

Agenesis of Corpus Callosum

Acrocallosal Syndrome

Corpus Luteum

Anisotropy

Nerve Fibers, Myelinated

Diffusion Tensor Imaging

Magnetic Resonance Imaging

Cuprizone

Diffusion Magnetic Resonance Imaging

Anodontia

Abnormalities, Multiple

Nervous System Malformations

Brain

Internal Capsule

Diffuse Axonal Injury

Image Processing, Computer-Assisted

Functional Laterality

Septum Pellucidum

Fornix, Brain

PAX9 Transcription Factor

Demyelinating Diseases

Brain Diseases

Neural Pathways

Myelin Sheath

Aicardi Syndrome

Tooth Abnormalities

Hydrocephalus

Cerebral Cortex

Oligodendroglia

Malformations of Cortical Development

Brain Mapping

Syndrome

Atrophy

Congenital Abnormalities

Intellectual Disability

Leukoencephalopathies

Axons

Cerebral Ventricles

Hypertelorism

Pregnancy

Urogenital Abnormalities

Microcephaly

Brain Injuries

Dominance, Cerebral

Corpora Allata

Dandy-Walker Syndrome

Marchiafava-Bignami Disease

Ultrasonography, Prenatal

Prenatal Diagnosis

Meningomyelocele

Lissencephaly

Organ Size

Neuroimaging

Infant, Newborn

Fetal Diseases

Cerebrum

Spastic Paraplegia, Hereditary

Craniofacial Abnormalities

Tooth Exfoliation

MSX1 Transcription Factor

Cebus

Lipoma

Image Interpretation, Computer-Assisted

Gestational Age

Neuronal Migration Disorders

Hyperglycinemia, Nonketotic

Neuroglia

Neuropsychological Tests

Penis

Whale, Killer

Imaging, Three-Dimensional

Aging

Lateral Ventricles

Dichotic Listening Tests

Corpus Luteum Maintenance

Reference Values

Analysis of Variance

Echoencephalography

Sex Characteristics