Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
A growth differentiation factor that plays a role in the genesis of left-right asymmetry during vertebrate development. Evidence for this role is seen in MICE where loss of growth differentiation factor 1 function results in right-left isomerism of visceral organs. In HUMANS heterozygous loss of growth differentiation factor 1 function has been associated with CONGENITAL HEART DEFECTS and TRANSPOSITION OF GREAT VESSELS.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
A family of intercellular signaling proteins that play and important role in regulating the development of many TISSUES and organs. Their name derives from the observation of a hedgehog-like appearance in DROSOPHILA embryos with genetic mutations that block their action.
The anterior of the three primitive cerebral vesicles of the embryonic brain arising from the NEURAL TUBE. It subdivides to form DIENCEPHALON and TELENCEPHALON. (Stedmans Medical Dictionary, 27th ed)
Abortion induced to save the life or health of a pregnant woman. (From Dorland, 28th ed)
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.
A mammalian fetus expelled by INDUCED ABORTION or SPONTANEOUS ABORTION.
A synthetic steroid with progestational activity.
A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.
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.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
A large family of cell regulatory proteins which are structurally related to TRANSFORMING GROWTH FACTOR BETA. The superfamily is subdivided into at least three related protein families: BONE MORPHOGENETIC PROTEINS; GROWTH DIFFERENTIATION FACTORS; and TRANSFORMING GROWTH FACTORS.
A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.
The bone that forms the frontal aspect of the skull. Its flat part forms the forehead, articulating inferiorly with the NASAL BONE and the CHEEK BONE on each side of the face.
Congenital absence of or defects in structures of the eye; may also be hereditary.
A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.

Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly. (1/183)

Proper dorsal-ventral patterning in the developing central nervous system requires signals from both the dorsal and ventral portions of the neural tube. Data from multiple studies have demonstrated that bone morphogenetic proteins (BMPs) and Sonic hedgehog protein are secreted factors that regulate dorsal and ventral specification, respectively, within the caudal neural tube. In the developing rostral central nervous system Sonic hedgehog protein also participates in ventral regionalization; however, the roles of BMPs in the developing brain are less clear. We hypothesized that BMPs also play a role in dorsal specification of the vertebrate forebrain. To test our hypothesis we implanted beads soaked in recombinant BMP5 or BMP4 into the neural tube of the chicken forebrain. Experimental embryos showed a loss of the basal telencephalon that resulted in holoprosencephaly (a single cerebral hemisphere), cyclopia (a single midline eye), and loss of ventral midline structures. In situ hybridization using a panel of probes to genes expressed in the dorsal and ventral forebrain revealed the loss of ventral markers with the maintenance of dorsal markers. Furthermore, we found that the loss of the basal telencephalon was the result of excessive cell death and not a change in cell fates. These data provide evidence that BMP signaling participates in dorsal-ventral patterning of the developing brain in vivo, and disturbances in dorsal-ventral signaling result in specific malformations of the forebrain.  (+info)

First-trimester ultrasound diagnosis of holoprosencephaly: three case reports. (2/183)

We present three cases of fetal holoprosencephaly diagnosed by transabdominal and transvaginal ultrasound examinations at 10 and 13 weeks' gestation. The diagnosis was based on two sonographic criteria: first, the intracranial finding of a single ventricle with a cerebral mantle and no visible midline structures but fusion of the thalami and corpus striatum; and, second, facial abnormalities, including hypotelorism. The ultrasound findings were confirmed by embryoscopy before abortion in one case and by pathological examination after abortion in two cases. Chromosome study of the three fetuses showed trisomy 18, triploidy and mosaic 18p deletion and duplication.  (+info)

Prenatal diagnosis of alobar holoprosencephaly at 10 weeks of gestation. (3/183)

Alobar holoprosencephaly is an intracranial abnormality characterized by failure of proper cleavage of the prosencephalon, accompanied by incomplete midfacial development. The prenatal sonographic diagnosis of alobar holoprosencephaly was first described in 1984; however, there have been only two reports of alobar holoprosencephaly diagnosed in the first trimester. We report a case of alobar holoprosencephaly diagnosed at 10 weeks of gestation.  (+info)

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. (4/183)

Holoprosencephaly (HPE), the most common developmental defect of the forebrain and the face, is genetically heterogeneous. One of the genes involved, Sonic hedgehog ( SHH ), on 7q36, has been identified as the first HPE-causing gene both in mouse and humans. In order to delineate the phenotype of specific SHH mutations, we described the expression of the SHH gene during early human embryogenesis and investigated the phenotype of novel SHH mutations. In situ hybridization studies were performed on paraffin-embedded human embryo sections at three different development stages. These studies show that SHH is expressed in the notochord, the floorplate, the brain, the zone of polarizing activity and the gut. We also report on the phenotype of four novel mutations identified in 40 HPE families (two in isolated HPE and two in familial HPE). Expressivity ranged from alobar HPE to microcephaly and hypoplasia of the pituitary gland in one family, and from HPE to an asymptomatic form in another family. No SHH mutation was found in six polymalformed cases combining HPE with other defects, such as skeletal, limb, cardiac, anal and/or renal anomalies. This study confirms the genetic heterogeneity of HPE, and further demonstrates that SHH mutations are associated with a broad spectrum of cerebral midline defects.  (+info)

oto is a homeotic locus with a role in anteroposterior development that is partially redundant with Lim1. (5/183)

Genetic control of mammalian head development involves mechanisms that are shared with trunk development as well as mechanisms that are independent. For example, mutations in the nodal gene disrupt axis formation and head development while mutations in the Otx2 or Lim1 genes block head development without disrupting development of the trunk. We show here that the oto mutation on mouse chromosome 1 defines a locus with a critical role in anterior development. The oto mutation disrupts development of the telencephalic and optic vesicles, the pharyngeal endoderm and the first branchial arch. Also, oto embryos have dose-dependent, posterior homeotic transformations throughout the axial skeleton. To further dissect the role of the oto locus in head development, we crossed mice carrying oto and Lim1 mutations. Interactions between the two mutations indicate that the role of oto in the regulation of head development is partially redundant with that of Lim1. The phenotype of oto embryos points to an early and critical role for oto in the development of forebrain subregions. Transformations of the vertebrae in oto embryos reveal a Lim1-independent role in the establishment of positional information in the trunk.  (+info)

Coexistent holoprosencephaly and Chiari II malformation. (6/183)

Chiari II malformations and holoprosencephaly have been considered to be brain malformations that differ with respect to teratogenic insult, embryologic mechanism, and morphology. We herein describe coexistent Chiari II malformation and holoprosencephaly that occurred in a viable infant. A review of the literature regarding Chiari II malformations and holoprosencephaly suggests that a disturbance to the mesenchyme in early embryologic life may be the cause of both malformations.  (+info)

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. (7/183)

Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon junctions of the SHH gene in 344 unrelated affected individuals. Herein, we describe 13 additional unrelated affected individuals with SHH mutations, including nonsense and missense mutations, deletions and an insertion. These mutations occur throughout the extent of the gene. No specific genotype-phenotype association is evident based on the correlation of the type or position of the mutations. In conjunction with our previous studies, we have identified a total of 23 mutations in 344 unrelated cases of HPE. They account for 14 cases of familial HPE and nine cases of sporadic HPE. Mutations in SHH were detected in 10 of 27 (37%) families showing autosomal dominant transmission of the HPE spectrum, based on structural anomalies. Interestingly, three of the patients with an SHH mutation also had abnormalities in another gene that is expressed during forebrain development. We suggest that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome for a given individual and that variations among these factors may cause the wide variability in the clinical features seen in HPE.  (+info)

Inhibition of sonic hedgehog signaling in vivo results in craniofacial neural crest cell death. (8/183)

BACKGROUND: Sonic hedgehog (Shh) is well known for its role in patterning tissues, including structures of the head. Haploinsufficiency for SHH in humans results in holoprosencephaly, a syndrome characterized by facial and forebrain abnormalities. Shh null mice have cyclopia and loss of branchial arch structures. It is unclear, however, whether these phenotypes arise solely from the early function of Shh in patterning midline structures, or whether Shh plays other roles in head development. RESULTS: To address the role of Shh after floorplate induction, we inhibited Shh signaling by injecting hybridoma cells that secrete a function-blocking anti-Shh antibody into the chick cranial mesenchyme. The antibody subsequently bound to Shh in the floorplate, notochord, and the pharyngeal endoderm. Perturbation of Shh signaling at this stage resulted in a significant reduction in head size after 1 day, loss of branchial arch structures after 2 days, and embryos with smaller heads after 7 days. Cell death was significantly increased in the neural tube and neural crest after 1 day, and neural crest cell death was not secondary to the loss of neural tube cells. CONCLUSIONS: Reduction of Shh signaling after neural tube closure resulted in a transient decrease in neural tube cell proliferation and an extensive increase in cell death in the neural tube and neural crest, which in turn resulted in decreased head size. The phenotypes observed after reduction of Shh are similar to those observed after cranial neural crest ablation. Thus, our results demonstrate a role for Shh in coordinating the proliferation and survival of cells of the neural tube and cranial neural crest.  (+info)

Holoprosencephaly is a congenital brain malformation that occurs due to the failure of the prosencephalon (the forebrain) to properly divide into the two hemispheres during embryonic development. This condition can vary in severity, from mild anomalies to severe neurological defects and facial abnormalities.

There are four primary types of holoprosencephaly: alobar, semilobar, lobar, and middle interhemispheric variant (MIV). Alobar holoprosencephaly is the most severe form, where the forebrain fails to divide into separate hemispheres, and there is a single ventricle instead of two. Semilobar holoprosencephaly has some separation of the hemispheres but not completely. Lobar holoprosencephaly shows more separation of the hemispheres, with a more typical appearance of the cerebral cortex. MIV is the mildest form and involves an abnormal development of the corpus callosum and third ventricle.

Facial anomalies often accompany holoprosencephaly, such as a single central eye (cyclopia), closely spaced eyes (hypotelorism), a proboscis above the nose, or a flat nasal bridge with a median cleft lip and palate. The severity of these facial abnormalities can correlate with the degree of brain malformation.

Holoprosencephaly is caused by genetic mutations, chromosomal abnormalities, or environmental factors that disrupt normal embryonic development. It affects approximately 1 in 250 conceptuses but has a lower prevalence at birth due to early pregnancy loss. The condition can be diagnosed through prenatal ultrasound, fetal MRI, or postnatal imaging techniques such as CT or MRI scans. Management of holoprosencephaly involves multidisciplinary care, addressing neurological, developmental, and medical needs.

Hypertelorism is a medical term that refers to an ocular condition where the distance between two eyes (interpupillary distance) is abnormally increased. It's typically defined as an interpupillary distance that measures more than 2 standard deviations beyond the mean for a given age, gender, and race.

This condition can be associated with various genetic syndromes or conditions such as craniosynostosis (premature fusion of skull sutures), fetal alcohol syndrome, and certain chromosomal abnormalities like Down syndrome. Hypertelorism may also occur in isolation without any other associated anomalies.

It's important to note that hypertelorism can have cosmetic implications, particularly if the distance between the eyes is significantly increased, as it may affect the overall symmetry and appearance of the face. However, in most cases, this condition does not directly impact vision unless there are other related structural abnormalities of the eye or orbit.

Growth Differentiation Factor 1 (GDF1), also known as Vascular Endothelial Growth Factor E (VEGE), is a protein that belongs to the transforming growth factor-beta (TGF-β) superfamily. It plays crucial roles in embryonic development, including the regulation of cell growth, differentiation, and apoptosis (programmed cell death). GDF1 is essential for proper patterning and morphogenesis during gastrulation and organogenesis. In adults, GDF1 expression is limited to certain tissues, such as the reproductive system, where it continues to regulate cellular processes.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.

Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).

Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.

Hedgehog proteins are a group of signaling molecules that play crucial roles in the development and regulation of various biological processes in animals. They are named after the hedgehog mutant fruit flies, which have spiky bristles due to defects in this pathway. These proteins are involved in cell growth, differentiation, and tissue regeneration. They exert their effects by binding to specific receptors on the surface of target cells, leading to a cascade of intracellular signaling events that ultimately influence gene expression and cell behavior.

There are three main types of Hedgehog proteins in mammals: Sonic hedgehog (Shh), Indian hedgehog (Ihh), and Desert hedgehog (Dhh). These protecules undergo post-translational modifications, including cleavage and lipid modification, which are essential for their activity. Dysregulation of Hedgehog signaling has been implicated in various diseases, including cancer, developmental abnormalities, and degenerative disorders.

The prosencephalon is a term used in the field of neuroembryology, which refers to the developmental stage of the forebrain in the embryonic nervous system. It is one of the three primary vesicles that form during the initial stages of neurulation, along with the mesencephalon (midbrain) and rhombencephalon (hindbrain).

The prosencephalon further differentiates into two secondary vesicles: the telencephalon and diencephalon. The telencephalon gives rise to structures such as the cerebral cortex, basal ganglia, and olfactory bulbs, while the diencephalon develops into structures like the thalamus, hypothalamus, and epithalamus.

It is important to note that 'prosencephalon' itself is not used as a medical term in adult neuroanatomy, but it is crucial for understanding the development of the human brain during embryogenesis.

A therapeutic abortion is the deliberate termination of a pregnancy before viability (the ability of the fetus to survive outside the womb), which is generally considered to be around 24 weeks of gestation. The term "therapeutic" is used to describe abortions that are performed for medical reasons, such as to protect the life or health of the pregnant individual, or in cases where the fetus has a severe abnormality and cannot survive outside the womb.

Therapeutic abortions may be recommended in situations where continuing the pregnancy poses a significant risk to the health or life of the pregnant individual. For example, if a pregnant person has a serious medical condition such as heart disease, cancer, or severe pre-eclampsia, continuing the pregnancy could worsen their condition and put them at risk of serious complications or even death. In these cases, a therapeutic abortion may be necessary to protect the health or life of the pregnant individual.

Therapeutic abortions may also be recommended in cases where the fetus has a severe abnormality that is not compatible with life outside the womb. For example, if the fetus has a condition such as anencephaly (a neural tube defect where the brain and skull do not form properly), or a chromosomal abnormality such as Trisomy 13 or 18, continuing the pregnancy may result in a stillbirth or a short, painful life for the infant after birth. In these cases, a therapeutic abortion may be considered a compassionate option to prevent unnecessary suffering.

It's important to note that the decision to undergo a therapeutic abortion is a deeply personal one, and should be made in consultation with medical professionals and trusted family members or support networks. Ultimately, the decision should be based on what is best for the physical and emotional health of the pregnant individual, taking into account their values, beliefs, and circumstances.

Agenesis of the corpus callosum is a birth defect in which the corpus callosum, the part of the brain that connects the two hemispheres and allows them to communicate, fails to develop normally during fetal development. In cases of agenesis of the corpus callosum, the corpus callosum is partially or completely absent.

This condition can vary in severity and may be associated with other brain abnormalities. Some individuals with agenesis of the corpus callosum may have normal intelligence and few symptoms, while others may have intellectual disability, developmental delays, seizures, vision problems, and difficulties with movement and coordination. The exact cause of agenesis of the corpus callosum is not always known, but it can be caused by genetic factors or exposure to certain medications or environmental toxins during pregnancy.

An aborted fetus refers to a developing human organism that is expelled or removed from the uterus before it is viable, typically as a result of an induced abortion. An abortion is a medical procedure that intentionally ends a pregnancy and can be performed through various methods, depending on the stage of the pregnancy.

It's important to note that the term "abortion" is often used in different contexts and may carry different connotations depending on one's perspective. In medical terminology, an abortion refers specifically to the intentional ending of a pregnancy before viability. However, in other contexts, the term may be used more broadly to refer to any spontaneous or induced loss of a pregnancy, including miscarriages and stillbirths.

The definition of "viable" can vary, but it generally refers to the point at which a fetus can survive outside the uterus with medical assistance, typically around 24 weeks of gestation. Fetal viability is a complex issue that depends on many factors, including the availability and accessibility of medical technology and resources.

In summary, an aborted fetus is a developing human organism that is intentionally expelled or removed from the uterus before it is viable, typically as a result of a medical procedure called an abortion.

Allylestrenol is a synthetic progestogen medication, which is a type of steroid hormone. It is similar in structure to the natural female sex hormone progesterone and is used in the treatment of various gynecological conditions such as menstrual disorders, endometriosis, and threatened miscarriage.

Progestogens are important for maintaining pregnancy by supporting the lining of the uterus (endometrium) and preventing muscle contractions that could lead to a miscarriage. Allylestrenol has been used as an alternative to natural progesterone because it is more potent and has a longer duration of action.

However, like other synthetic hormones, allylestrenol can cause side effects such as nausea, vomiting, headache, breast tenderness, mood changes, and irregular menstrual bleeding. It should be used with caution in women with a history of thromboembolic disease (blood clots) or liver dysfunction.

It is important to note that the use of allylestrenol and other hormonal medications should always be under the supervision of a healthcare professional, who can monitor their effectiveness and potential side effects.

Choanal atresia is a medical condition where the back of the nasal passage (choana) is blocked or narrowed, usually by bone, membrane, or a combination of both. This blockage can be present at birth (congenital) or acquired later in life due to various reasons such as infection, injury, or tumor.

Congenital choanal atresia is more common and occurs during fetal development when the nasal passages fail to open properly. It can affect one or both sides of the nasal passage and can be unilateral (affecting one side) or bilateral (affecting both sides). Bilateral choanal atresia can cause breathing difficulties in newborns, as they are obligate nose breathers and cannot breathe through their mouth yet.

Treatment for choanal atresia typically involves surgical intervention to open up the nasal passage and restore normal breathing. The specific type of surgery may depend on the location and extent of the blockage. In some cases, follow-up surgeries or additional treatments may be necessary to ensure proper functioning of the nasal passage.

Prenatal ultrasonography, also known as obstetric ultrasound, is a medical diagnostic procedure that uses high-frequency sound waves to create images of the developing fetus, placenta, and amniotic fluid inside the uterus. It is a non-invasive and painless test that is widely used during pregnancy to monitor the growth and development of the fetus, detect any potential abnormalities or complications, and determine the due date.

During the procedure, a transducer (a small handheld device) is placed on the mother's abdomen and moved around to capture images from different angles. The sound waves travel through the mother's body and bounce back off the fetus, producing echoes that are then converted into electrical signals and displayed as images on a screen.

Prenatal ultrasonography can be performed at various stages of pregnancy, including early pregnancy to confirm the pregnancy and detect the number of fetuses, mid-pregnancy to assess the growth and development of the fetus, and late pregnancy to evaluate the position of the fetus and determine if it is head down or breech. It can also be used to guide invasive procedures such as amniocentesis or chorionic villus sampling.

Overall, prenatal ultrasonography is a valuable tool in modern obstetrics that helps ensure the health and well-being of both the mother and the developing fetus.

A coloboma is a congenital condition that results from incomplete closure of the optic fissure during fetal development. This results in a gap or hole in one or more structures of the eye, such as the iris, retina, choroid, or optic nerve. The size and location of the coloboma can vary widely, and it may affect one or both eyes.

Colobomas can cause a range of visual symptoms, depending on their size and location. Some people with colobomas may have no visual impairment, while others may experience reduced vision, double vision, or sensitivity to light. In severe cases, colobomas can lead to blindness.

Colobomas are usually diagnosed during routine eye exams and are typically not treatable, although some visual symptoms may be managed with glasses, contact lenses, or surgery in certain cases. Colobomas can occur as an isolated condition or as part of a genetic syndrome, so individuals with colobomas may benefit from genetic counseling to understand their risk of passing the condition on to their offspring.

The TGF-beta (Transforming Growth Factor-beta) superfamily proteins are a group of structurally related signaling molecules that play crucial roles in the regulation of various cellular processes, including cell growth, differentiation, apoptosis, and extracellular matrix production. This superfamily includes TGF-betas, bone morphogenetic proteins (BMPs), activins, inhibins, and several other members. These proteins bind to and signal through type I and type II serine/threonine kinase receptors, leading to the activation of intracellular Smad proteins and subsequent regulation of gene expression. Dysregulation of TGF-beta superfamily proteins has been implicated in various human diseases, such as fibrosis, cancer, and autoimmune disorders.

Polyhydramnios is a medical condition characterized by an excessive accumulation of amniotic fluid in the sac surrounding the fetus during pregnancy, typically defined as an amniotic fluid index (AFI) greater than 24 cm or a single deepest pocket (SDP) measurement of more than 8 cm. It occurs in approximately 1-2% of pregnancies and can be associated with various maternal, fetal, and genetic conditions. If left untreated, polyhydramnios may increase the risk of premature labor, premature rupture of membranes, and other pregnancy complications. Proper diagnosis and management are essential to ensure a healthy pregnancy outcome.

The frontal bone is the bone that forms the forehead and the upper part of the eye sockets (orbits) in the skull. It is a single, flat bone that has a prominent ridge in the middle called the superior sagittal sinus, which contains venous blood. The frontal bone articulates with several other bones, including the parietal bones at the sides and back, the nasal bones in the center of the face, and the zygomatic (cheek) bones at the lower sides of the orbits.

Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:

1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.

These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.

Polydactyly is a genetic condition where an individual is born with more than the usual number of fingers or toes, often caused by mutations in specific genes. It can occur as an isolated trait or as part of a genetic syndrome. The additional digit(s) may be fully formed and functional, underdeveloped, or just a small bump. Polydactyly is one of the most common congenital limb abnormalities.

Holoprosencephaly Median cleft lip Median cleft lip and palate Solitary median maxillary central incisor Anophthalmia Anosmia ... Holoprosencephaly is an abnormality of brain development in which the brain doesnt properly divide into the right and left ... Holoprosencephaly is an abnormality of brain development in which the brain doesnt properly divide into the right and left ... Holoprosencephaly is a genetic disease. This means that one or more genes have differences that prevent them from working ...
GeneReview/NIH/UW entry on Holoprosencephaly Overview holoprosencephaly at NINDS What do we know about holoprosencephaly - ... The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations. "About Holoprosencephaly". Archived from ... holoprosencephaly type 3 a.k.a. HPE3), TGIF, ZIC2, SIX3 and BOC genes. Although many children with holoprosencephaly have ... The severity of holoprosencephaly is highly variable. In less severe cases, babies are born with normal or near-normal brain ...
Holoprosencephaly is a rare congenital anomaly that is characterized by lack of cleavage of the prosencephalon. This case ...
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Explore symptoms, ... Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent of all cases of holoprosencephaly, which affects an ... About 25 percent of people with nonsyndromic holoprosencephaly have a mutation in one of these four genes: SHH, ZIC2, SIX3, or ... Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):13-21. ...
... alobar holoprosencephaly, semilobar holoprosencephaly, lobar holoprosencephaly, and a middle interhemispheric fusion variant ( ... Holoprosencephaly is a structural malformation of the brain that results from complete or incomplete nonseparation of the ... prosencephalon (forebrain). Classification Holoprosencephaly is categorized into 4 subtypes: ... encoded search term (Holoprosencephaly) and Holoprosencephaly What to Read Next on Medscape ...
Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide ... What is holoprosencephaly?. Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic ... How can I or my loved one help improve care for people with holoprosencephaly?. Consider participating in a clinical trial so ... Where can I find more information about holoprosencephaly?. Information may be available from the following resources: ...
Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Explore symptoms, ... Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent of all cases of holoprosencephaly, which affects an ... About 25 percent of people with nonsyndromic holoprosencephaly have a mutation in one of these four genes: SHH, ZIC2, SIX3, or ... Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):13-21. ...
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Holoprosencephaly Society for Maternal-Fetal Medicine (SMFM) et al. Am J Obstet Gynecol. 2020 Dec. ... Alobar holoprosencephaly detected in a 9-week embryo. Meagher S, Hui L. Meagher S, et al. Am J Obstet Gynecol. 2019 Jul;221(1): ... Holoprosencephaly and chromosomal anomalies. Chow BH, Loh SF, Yan YL, Ang HK, Yeo GS. Chow BH, et al. Singapore Med J. 1996 Aug ... Alobar holoprosencephaly with cebocephaly in a neonate: A rare case report from Northern Tanzania. Ariyo IJ, Mchaile DN, ...
Apparent atypical callosal dysgenesis: analysis of MR findings in six cases and their relationship to holoprosencephaly.. A J ... Differentiation between semilobar holoprosencephaly and agenesis of the corpus callosum with enlarged hippocampal commissure-- ... Apparent atypical callosal dysgenesis: analysis of MR findings in six cases and their relationship to holoprosencephaly. ... Four patients had semilobar holoprosencephaly; the dorsal interhemispheric commissure in these four infants resembled a true ...
Novel heterozygous variants in KMT2D associated with holoprosencephaly Cedrik Tekendo-Ngongang 1 , Paul Kruszka 1 , Ariel F ... Holoprosencephaly in Kabuki syndrome. Daly T, Roberts A, Yang E, Mochida GH, Bodamer O. Daly T, et al. Am J Med Genet A. 2020 ... Novel heterozygous variants in KMT2D associated with holoprosencephaly Cedrik Tekendo-Ngongang et al. Clin Genet. 2019 Sep. ... Neither holoprosencephaly nor other defects in human forebrain development have been previously associated with Kabuki syndrome ...
Holoprosencephaly is a severe abnormality in the development of the brain, in which the two sides of the brain do not separate ... What is holoprosencephaly?. Holoprosencephaly is a severe abnormality in the development of the brain. In normal development, ... Holoprosencephaly is a condition in which the two sides of the brain do not separate normally. This condition occurs in ... Unfortunately, the prognosis for holoprosencephaly is poor. Survival is possible in less severe cases, however with severe ...
... holoprosencephaly-2 [meta_description] => [meta_keywords] => [meta_title] => [quantity_discount] => 0 [customizable] => 0 [new ... Holoprosencephaly 2 [description] => [description_short] => [quantity] => 0 [minimal_quantity] => 1 [available_now] => [ ...
Brief clinical report: Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 deletion. ... Dive into the research topics of Brief clinical report: Holoprosencephaly associated with an apparent isolated 2q37.1→2q37.3 ...
Tags:alobar holoprosencephaly, An open letter, comfort, grief, incompatible with life, losing your child, Mercedes M. Yardley ... You should hold your holoprosencephaly baby after birth. Hold him because he is your baby, and you are his mother or father. It ... You found my blog by searching for the phrase "should i hold my holoprosencephaly baby after birth". My heart goes out to you, ... We lost one early, one had Alobar Holoprosencephaly, and the other, in a separate sack, is now a healthy, happy five-year-old. ...
... with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and ... Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the ... Camera Lituania Cohen syndrome; Genoa syndrome; Holoprosencephaly craniosynostosis; HOLOPROSENCEPHALY, SEMILOBAR, WITH ... CROGVHoloprosencephaly sequence*CROGVAgnathia-otocephaly complex ... CROGVHoloprosencephaly 9. *CROGVHoloprosencephaly caudal ...
Nonsyndromic holoprosencephaly (HPE) is a structural anomaly of the brain in humans resulting from incomplete cleavage of the ... Nonsyndromic holoprosencephaly (HPE) is a structural anomaly of the brain in humans resulting from incomplete cleavage of the ... Nonsyndromic Holoprosencephaly via the CRIPTO/TDGF1 Gene. New York State Approved Test ... Candidates for this test are patients with holoprosencephaly (HPE), other brain malformations, anophthalmia, and cyclopia. ...
Holoprosencephaly. 330. 48,100. 430. 52,217. 615. 22,643. 550. 34,333. 175. 21,945. 2,100. 35,703. ...
Nosyndromic holoprosencephaly) - Genes SHH, ZIC2, SIX3 and homeobox protein tgif1. ... Genetic Testing - holoprosencephaly nonsyndromic (Nosyndromic holoprosencephaly) - Genes SHH, ZIC2, SIX3 and homeobox ... Nonsyndromic holoprosencephaly (nonsyndromic holoprosencephaly) - Genes SHH, ZIC2, SIX3 or homeobox protein tgif1. ... About 25 percent of people with non - syndromic holoprosencephaly have a mutation in one of these four genes: SHH, ZIC2, SIX3 ...
Holoprosencephaly and Midline Facial Anomalies: Redefining Classification and Management. Elias, Diana L.; Kawamoto, Henry K. ...
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. In: Journal of ... Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. Journal of ... Holoprosencephaly (HPE) is the most common developmental defect affecting the forebrain and midface in humans. The aetiology of ... Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. / Koolen, David ...
Wallis, D. & Muenke, M. Mutations in holoprosencephaly. Hum. Mutat. 16, 99-108 (2000). ...
Dive into the research topics of The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Together ... The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. ...
Holoprosencephaly (National Institute of Neurological Disorders and Stroke) * Hydranencephaly (National Institute of ... Nonsyndromic holoprosencephaly: MedlinePlus Genetics (National Library of Medicine) * Opitz G/BBB syndrome: MedlinePlus ...
Holoprosencephaly in Patau Syndrome. Schlosser AS, Costa GJC, Silva HSD, Mello JLM, Gomes LO, Onoyama MMO, Costa TMC. Schlosser ... Semilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant. Nonkulovski D, Sofijanova A, Spasovska T, ... Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management. Malta M, AlMutiri R, Martin CS, Srour M. ... Fetal Cyclopia, Proboscis, Holoprosencephaly, and Polydactyly: A Case Report With Review of Literature. Kollu R, Kotamraju S, ...
Holoprosencephaly in the genomics era. Am J Med Genet C Semin Med Genet 178(2):165-174, PMID: 29770992, 10.1002/ajmg.c.31615. ... Holoprosencephaly from conception to adulthood. Am J Med Genet C Semin Med Genet 178(2):122-127, PMID: 30182446, 10.1002/ajmg.c ... Non-genetic risk factors for holoprosencephaly. Am J Med Genet C Semin Med Genet 154C(1):73-85, PMID: 20104598, 10.1002/ajmg.c. ... Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. Teratology 16(3):261-272, PMID: 594909, 10.1002/tera. ...

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