Arthrogryposis: Persistent flexure or contracture of a joint.Hydranencephaly: A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)Clubfoot: A deformed foot in which the foot is plantarflexed, inverted and adducted.Fetal Movement: Physical activity of the FETUS in utero. Gross or fine fetal body movement can be monitored by the mother, PALPATION, or ULTRASONOGRAPHY.Oligohydramnios: A condition of abnormally low AMNIOTIC FLUID volume. Principal causes include malformations of fetal URINARY TRACT; FETAL GROWTH RETARDATION; GESTATIONAL HYPERTENSION; nicotine poisoning; and PROLONGED PREGNANCY.Bunyaviridae Infections: Virus diseases caused by the BUNYAVIRIDAE.Joint Capsule: The sac enclosing a joint. It is composed of an outer fibrous articular capsule and an inner SYNOVIAL MEMBRANE.Syndrome: A characteristic symptom complex.Abnormalities, MultipleMalformations of Cortical Development: 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.Microcephaly: 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.)Phosphoglycerate Dehydrogenase: An enzyme that catalyzes the oxidation of 3-phosphoglycerate to 3-phosphohydroxypyruvate. It takes part in the L-SERINE biosynthesis pathway.Toxoplasmosis, Congenital: Prenatal protozoal infection with TOXOPLASMA gondii which is associated with injury to the developing fetal nervous system. The severity of this condition is related to the stage of pregnancy during which the infection occurs; first trimester infections are associated with a greater degree of neurologic dysfunction. Clinical features include HYDROCEPHALUS; MICROCEPHALY; deafness; cerebral calcifications; SEIZURES; and psychomotor retardation. Signs of a systemic infection may also be present at birth, including fever, rash, and hepatosplenomegaly. (From Adams et al., Principles of Neurology, 6th ed, p735)Rubella: An acute infectious disease caused by the RUBELLA VIRUS. The virus enters the respiratory tract via airborne droplet and spreads to the LYMPHATIC SYSTEM.Micronesia: The collective name for islands of the Pacific Ocean east of the Philippines, including the Mariana, PALAU, Caroline, Marshall, and Kiribati Islands. (From Webster's New Geographical Dictionary, 1988, p761 & Room, Brewer's Dictionary of Names, 1992, p350)Toxoplasmosis: The acquired form of infection by Toxoplasma gondii in animals and man.Encephalitis, St. Louis: A viral encephalitis caused by the St. Louis encephalitis virus (ENCEPHALITIS VIRUS, ST. LOUIS), a FLAVIVIRUS. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus CULEX. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an ASEPTIC MENINGITIS or ENCEPHALITIS. Clinical manifestations of the encephalitic presentation may include SEIZURES, lethargy, MYOCLONUS, focal neurologic signs, COMA, and DEATH. (From Adams et al., Principles of Neurology, 6th ed, p750)Encephalitis Virus, St. Louis: A species of FLAVIVIRUS, one of the Japanese encephalitis virus group (ENCEPHALITIS VIRUSES, JAPANESE), which is the etiologic agent of ST. LOUIS ENCEPHALITIS in the United States, the Caribbean, and Central and South America.Orthopedics: A surgical specialty which utilizes medical, surgical, and physical methods to treat and correct deformities, diseases, and injuries to the skeletal system, its articulations, and associated structures.Textbooks as Topic: Books used in the study of a subject that contain a systematic presentation of the principles and vocabulary of a subject.North CarolinaArthroplasty, Replacement, Knee: Replacement of the knee joint.Arthroplasty, Replacement: Partial or total replacement of a joint.Arthroplasty, Replacement, Hip: Replacement of the hip joint.

Whence the arthrogrypotics? (1/125)

During the course of a nation-wide survey of patients with bone and joint deformities, twenty-six individuals with arthrogryposis multiplex congenita, in the narrow and precise sense of the term, were investigated. No patient was more than twenty-four years of age. However, on a basis of the figures of population, it can be estimated that 21-0 +/- 6-5 older affected individuals should have been encountered. Furthermore, there was a relative excess of younger children. The series was reasonably unbiased, and as arthrogryposis is non-lethal the deficiency of affected adults is an anomalous finding. It is tentatively suggested that arthrogryposis might result from the intra-uterine influence of an unknown environmental agent which has been present in South Africa for only a limited period of time. Detection of this factor could be an important step in the prevention of the disease.  (+info)

Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. (2/125)

Arthrogryposis multiplex congenita (AMC) is characterized by fixed joint contractures and other deformities, sometimes resulting in fetal death. The cause is unknown in most cases, but some women with fetuses affected by severe AMC have serum antibodies that inhibit fetal acetylcholine receptor (AChR) function, and antibodies to fetal antigens might play a pathogenic role in other congenital disorders. To investigate this possibility, we have established a model by injecting pregnant mice with plasma from four anti-AChR antibody-positive women whose fetuses had severe AMC. We found that human antibodies can be transferred efficiently to the mouse fetus during the last few days of fetal life. Many of the fetuses of dams injected with AMC maternal plasmas or Ig were stillborn and showed fixed joints and other deformities. Moreover, similar changes were found in mice after injection of a serum from one anti-AChR antibody-negative mother who had had four AMC fetuses. Thus, we have confirmed the role of maternal antibodies in cases of AMC associated with maternal anti-AChR, and we have demonstrated the existence of pathogenic maternal factors in one other case. Importantly, this approach can be used to look at the effects of other maternal human antibodies on development of the fetus.  (+info)

Combined cuboid/cuneiform osteotomy for correction of residual adductus deformity in idiopathic and secondary club feet. (3/125)

We used a combined cuboid/cuneiform osteotomy to treat residual adductus deformity in idiopathic and secondary club feet. The mean follow-up for 27 feet (22 idiopathic, four arthrogrypotic and one related to amniotic band syndrome) was 5.0 years (2.0 to 9.8). All healed uneventfully except for one early wound infection. No further surgery was required in the 22 idiopathic club feet but four of five with secondary deformity needed further surgery. At follow-up all patients with idiopathic and two with secondary club feet were free from pain and satisfied with the result. In the idiopathic feet, adductus of the forefoot, as measured by the calcaneal second metatarsal angle, improved on average from 20.7 +/- 2.0 degrees to 8.9 +/- 1.8 degrees (p < 0.05). In four feet, with a follow-up of more than six years, there was complete recurrence of the deformity. In the secondary club feet, there was no improvement of the adductus. We conclude that in most, but not all, idiopathic club feet a cuboid/cuneiform osteotomy can provide satisfactory correction of adductus deformity. Those with secondary deformity require other procedures.  (+info)

Prenatal diagnosis of the cerebro-oculo-facio-skeletal (COFS) syndrome. (4/125)

BACKGROUND: The Cerebro-Ocular-Facio-Skeletal (COFS) syndrome is an autosomal recessive condition characterized by neurogenic arthrogryposis, severe facial anomalies and brain maldevelopment. We describe here the first case of prenatal diagnosis of this syndrome in a 21-week fetus. CASE: The woman was referred to our unit on suspicion of fetal microphthalmia. On trans-abdominal ultrasound, severe bilateral microphthalmia was confirmed. Micrognathia, multiple joint contractures and rockerbottom feet were also detected. On the basis of these findings, the diagnosis of COFS syndrome was hypothesized. After termination of pregnancy, necropsy confirmed all prenatal findings. Histology showed severe architectural derangement of the eye and brain together with cerebellar anomalies compatible with the diagnosis of COFS syndrome. CONCLUSIONS: To the best of our knowledge, this represents the first case of prenatal diagnosis of COFS syndrome. This case demonstrates the feasibility of such a diagnosis by ultrasound and identifies the malformations already present and detectable at mid-gestation.  (+info)

Detection of Akabane viral antigens in spontaneous lymphohistiocytic encephalomyelitis in cattle. (5/125)

A 5-month-old Japanese black bull calf and twenty-seven 1-27-day-old calves exhibiting neurological signs between August and October 1998 were examined. The bull calf exhibited rapid breathing, fever, hypersensitivity, and ataxia and was euthanized 4 days after the onset of symptoms. The 27 calves primarily exhibited ataxia, and 15 had arthrogryposis. Histological examination of the bull calf revealed perivascular infiltraction by mononuclear cells, diffuse to multifocal gliosis, and neuronal necrosis in the brain and spinal cord. Multiple malacic foci were found in the midbrain in 5 cases. In contrast, in the 15 calves necropsied in October, there were fewer inflammatory changes, but there was neuronal cell loss in the ventral horn and a decrease in myelinated axons in the lateral and ventral funiculi. Immunohistochemical examination using a rabbit antiserum against Akabane virus strain OBE-1 revealed a large amount of viral antigen in the degenerating neurons and glial cells of the bull calf, mainly in the spinal gray matter. Small amounts of viral antigen in swollen axons and a few glial cells were found in 5 of 27 calves. Thirteen of the 27 calves had high neutralization antibody titers against the Akabane virus, whereas there was no significant antibody titer in most of the calves necropsied during August. The present study revealed that viral antigen detection was very useful for the diagnosis of Akabane diseases in the 5-month-old bull calf that was suspected to be infected postnatally, while it had limited usefulness in the other young calves.  (+info)

Pena-Shokeir phenotype with variable onset in three consecutive pregnancies. (6/125)

The Pena-Shokeir phenotype represents an autosomal recessive syndrome characterized by neurogenic arthrogryposis, facial anomalies and pulmonary hypoplasia. Prenatal diagnosis of this disease has been reported prospectively and in cases with positive family history. We describe here a patient who has had three consecutive pregnancies affected by the Pena-Shokeir syndrome. In these pregnancies, the onset of the arthrogryposis varied between the 12th and the 18th week of gestation. Therefore, the possibility of a variable chronological development of the main diagnostic feature of the syndrome, arthrogryposis, has to be taken into proper consideration while counseling families with a positive history for the Pena-Shokeir phenotype.  (+info)

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. (7/125)

Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita. Neuromuscular disorders are among the many different causes of reduced fetal movement. Many congenital myasthenic syndromes (CMSs) are due to mutations of the adult-specific epsilon subunit of the acetylcholine receptor (AChR), and, thus, functional deficits do not arise until late in gestation. However, an earlier effect on the fetus might be predicted with some defects of other AChR subunits. We studied a child who presented at birth with joint contractures and was subsequently found to have a CMS. Mutational screening revealed heteroallelic mutation within the AChR delta subunit gene, delta 756ins2 and delta E59K. Expression studies demonstrate that delta 756ins2 is a null mutation. By contrast, both fetal and adult AChR containing delta E59K have shorter than normal channel activations that predict fast decay of endplate currents. Thus, delta E59K causes dysfunction of fetal as well as the adult AChR and would explain the presence of joint contractures on the basis of reduced fetal movement. This is the first report of the association of AChR gene mutations with arthrogryposis multiplex congenita. It is probable that mutations that severely disrupt function of fetal AChR will underlie additional cases.  (+info)

The treatment of recurrent arthrogrypotic club foot in children by the Ilizarov method. A preliminary report. (8/125)

Between 1994 and 1997 we used the Ilizarov apparatus to treat 12 recurrent arthrogrypotic club feet in nine patients with a mean age of 5.3 years (3.2 to 7). After a mean of three weeks (two to seven) for correction of the deformity and 1.5 weeks (one to four) for stabilisation in the apparatus, immobilisation in a cast was carried out for a mean of 14 weeks (7 to 24). The mean follow-up period was 35 months (27 to 57). Before operation there were one grade-II (moderate), eight grade-III (severe) and three grade-IV (very severe) club feet, according to the rating system of Dimeglio et al. After operation, all the club feet except one were grade I (benign) with a painless, plantigrade platform. Radiological assessment and functional evaluation confirmed significant improvement. Two complications occurred in one patient, namely, epiphysiolysis of the distal tibia and recurrence of the foot deformity. These results suggest that our proposed modification of the Ilizarov technique is effective in the management of recurrent arthrogrypotic club foot in young children.  (+info)

  • Arthrogryposis is caused by a condition called as fetal akinesia which means that when the baby is inside the womb of the mother it is not able to move inside as much as it should resulting in underdevelopment of the muscles and joints resulting in Arthrogryposis. (
  • Antibodies that block the fetal form of the AChR are occasionally present in mothers who develop MG after pregnancy, especially in those whose babies are born with arthrogryposis multiplex congenita. (
  • Since Arthrogryposis is not a single medical condition hence the child may also have symptoms indicating a problem with the nervous system, heart, kidneys or other vital organs of the body. (
  • Arthrogryposis can be mild or severe, and symptoms vary greatly. (
  • Arthrogryposis occurs when joints become permanently fixed in place - either bent or straight. (
  • Arthrogryposis is a term used to describe a number of rare conditions characterized by stiff joints and abnormally developed muscles. (
  • It is also seen in Arthrogryposis that muscles adjacent to the affected joints are quite weak and stiff and in some cases muscles may even be completely missing. (
  • Arthrogryposis as stated is a medical condition in which the child is born with joints that are too stiff too move and are stuck in one position. (
  • The main aim for treating Arthrogryposis is to allow the child to move the affected joints as normally as possible, which means initiating treatments to increase the flexibility of the joint, improving strength of the muscles surrounding the joint, and maintaining a normal alignment of the bones. (
  • This is the next stage of treatment for Arthrogryposis in which the affected joint is either casted or splinted so that the joints are aligned in a normal way which will help the child move and navigate better and will be able to be independent. (
  • Arthrogryposis multiplex congenita is a congenital deformity affecting the extremities, characterized by marked muscular wasting the loss of mass, increased fibrous tissue around the joints, and therefore disturbance of mobility and various characteristic deformities. (
  • A variety of maternal illnesses may result in arthrogryposis. (
  • The hand research team reviewed and analyzed medical records of patients who had tricepsplasty and elbow release surgery as part of their treatment for arthrogryposis. (
  • If your child has one of the medical conditions that cause arthrogryposis, they need the highest level of care to achieve the best possible outcome. (
  • A slightly milder phenotype with survival beyond 32nd gestational week also characterized by foetal akinesia, arthrogryposis and anterior horn cell loss (Lethal arthrogryposis with anterior horn cell disease, LAAHD) was also shown to be allelic to LCCS1 and result from mutations in GLE1. (
  • Lethal arthrogryposis with anterior horn cell disease Online Mendelian Inheritance in Man (OMIM) 255310 Norio R (2003). (
  • Total fetal immobility: Suspect lethal arthrogryposis. (
  • Talipes and bilateral fixed flexion deformities of the hands, wrists, elbows, and knees: Suspect lethal arthrogryposis. (
  • In summary, our data from family-based ES further delineate the molecular etiology of arthrogryposis, yielded several candidate disease-associated genes, and provide evidence for mutational burden in a biological pathway or network. (
  • Dr. Lisa Baumbach-Reardon, an Associate Professor at the Translational Genomics Research Institute, will lead a panel discussion about Arthrogryposis (ARGY) today at the 2013 American College of Medical Genetics Annual Clinical Genetics Meeting. (
  • Distal arthrogryposis type 1: clinical analysis of a large kindred. (
  • Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. (
  • Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. (
  • We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis. (
  • Arthrogryposis of the lower extremities has been reported with lumbosacral meningocele (Figure 163.1) and with sacral agenesis. (
  • A] Arthrogryposis of the lower extremities (after surgery). (
  • Arthrogryposis is detectable at birth or in utero using ultrasonography Involved extremities are fusiform or cylindrical in shape, with thin subcutaneous tissue and absent skin creases. (
  • It should be suspected if no cause for arthrogryposis is found and there are no signs of brain or brainstem involvement. (
  • Genetics of Arthrogryposis: Linkage Analysis Approach. (
  • The genetics of arthrogryposis in Charolais cattle. (
  • Homozygosity mapping combined with exome sequencing identified a disease-causing nonsense mutation in the ultimate exon of full-length SYNE1 transcript in an 8-year-old boy with distal arthrogryposis and muscular hypotonia. (
  • Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. (
  • We report an association of the homozygous dominant disease-causing TOR1A p.Glu303del mutation, and a novel homozygous missense variant (p.Gly318Ser) with a severe arthrogryposis phenotype with developmental delay, strabismus and tremor in three unrelated Iranian families. (
  • Neurogenic theory is most often mentioned as an explanation of fetal dystrophic changes in arthrogryposis - neurogenic damage of effector organs. (