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PubMed1983

Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins.

We report on 11 cases of amyoplasia in one of identical twins. In total, 135 patients with amyoplasia were ascertained from a study of 350 patients with multiple congenital joint contractures (arthrogryposis). These 11 cases of identical twins with amyoplasia represent 8% of our patients with amyoplasia. At least 18 sets of twins with congenital contractures have been reported previously. However, only four of these appear to involve identical twins discordant for amyoplasia. Thus, 15 cases in which only one of identical twins are affected with amyoplasia have been identified.

Adolescent↗
PubMed1990

Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs.

A brother and a sister presented with a malformation syndrome consisting of facial anomalies, distal arthrogryposis with camptodactyly of fingers and "hammer toes," severe mental retardation, and hypopituitarism. The girl is now 6 1/2 years old and exhibits severe mental retardation. She has abnormal secretion of growth hormone and responded to growth hormone therapy. Her brother was born with the same facial manifestations, distal contractures, and hypopituitarism. He died unexpectedly at age 3 months of no apparent cause. The occurrence of the syndrome in 2 sibs of different sex suggests autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1990

Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.

We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed.

Arthrogryposis↗
PubMed1991

Syndrome of mental retardation and distal arthrogryposis in sibs.

Two sisters presented with a syndrome of characteristic facial anomalies and distal arthrogryposis. The older sister is now 4 years old and is severely mentally retarded. Her sister died of respiratory failure due to hypoplastic lungs shortly after birth. The occurrence of this potentially lethal syndrome in 2 sisters with unaffected parents suggests autosomal recessive inheritance.

Arthrogryposis↗
PubMed1992

Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature.

Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin, translucent, taut skin, which tears spontaneously in flexion creases, arthrogryposis multiplex congenita (including the temporomandibular joint), enlarged fontanelles, typical face and dysplasia of clavicles and long bones. Histologic abnormalities include hyperplastic, abnormally keratinized epidermis, reduced tonofilaments, thin, compact dermis with hypoplasia of the elastic fibres, and abnormal subcutaneous fat. Fifteen previous cases are reviewed.

Abnormalities, Multiple↗
PubMed1995

Arthrogryposis multiplex congenita in an Arab kindred: update.

We have restudied the genetic and clinical characteristics of a large Arab kindred previously reported in 1970 by Lebenthal et al. [Pediatrics 46:891-899]. At total of 40 affected individuals was identified; all, except one, were products of 22 different consanguineous matings between the parents. The syndrome, which is present at birth, is expressed mainly by flexion contractures at the knees and elbows, with muscle hypotrophy/weakness around the involved joints. Five of the 6 individuals who were originally reported as having congenital and lethal heart defects were limited to one sibship. None of the new cases had heart defect or any associated malformation. Neurologic examination and electrophysiological studies demonstrated a neuropathic (non-myopathic) type of arthrogryposis. This is an autosomal recessive trait with wide variability in expression and possibly incomplete penetrance in the females. Because of the high consanguinity rate, it allows the use of homozygosity linkage studies to map the gene for this disorder.

Arthrogryposis↗
PubMed2003

Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis.

We present the first report of mosaic isochromosome 10p associated with multiple congenital anomalies including megacisterna magna, echogenic focus of the left ventricle, umbilical cord cysts, and distal arthrogryposis. The most obvious anomalies found on prenatal ultrasound were enlarged cisterna magna and lower limb flexion contractures which resembled clubfeet. Analyses of GTG-banded chromosomes of 42 cells harvested from 32 independent tissue culture colonies were examined. Thirty-five cells from 27 colonies had 46 chromosomes and appeared to be 46,XX, female karyotype. Seven cells from independent colonies had 47 chromosomes with abnormal karyotypes. The extra chromosome material was identified as isochromosome 10p without involvement of the heterochromatic region of the long arm [47,XX,+ i(10p)]. Mosaic tetrasomy 10p was confirmed using fluorescent in situ hybridization (FISH) of a 10p-specific probe to metaphase chromosomes of this patient.

Abnormalities, Multiple↗
PubMed2004

Distal arthrogryposis type IIB: unreported ophthalmic findings.

We describe four members spanning three generations of a Caucasian family affected with distal arthrogryposis (DA). Based on Hall's original classification, we have placed our family under type IIB and present previously unreported ophthalmic features. All the members had different degrees of ophthalmoplegia, ptosis, astigmatism, and strabismus. Other findings in affected family members included keratoconus in the index patient, which was associated with abnormal electron microscopy of the affected cornea and increased thickness of the central cornea, small axial length of the globe and choroidal folds in the others.

Adult↗
PubMed2005

Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.

We report on three male newborn infants of a highly inbred Lebanese family presenting with a characteristic phenotype: arthrogryposis multiplex, deafness, large inguinal hernia, hiccup-like diaphragmatic contractions, and inability to suck, requiring nasogastric gavage feeding. All three boys died from respiratory failure during the first 3 months of life. Intra vitam or post mortem examinations revealed myopathic changes and elevated glycogen content of muscle tissue. This new syndrome is probably transmitted in an autosomal recessive mode, although X-linked inheritance cannot be excluded.

1,4-alpha-Glucan Branching Enzyme↗
PubMed2003

Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita (AMC), a clinical syndrome characterized by multiple congenital joint contractures, frequently is caused by lesions in the peripheral nervous system. Two standard tests for the evaluation of the motor unit are nerve conduction studies/electromyography (NCS/EMG) and muscle biopsy. We reviewed the diagnostic value of these two studies in the evaluation of AMC over a 23-year period, analyzing 38 patients with AMC who had NCS/EMG, muscle biopsy, or both. Final diagnoses were classified as neurogenic (8 patients), myopathic (10 patients), "other" (12 patients), or unknown (8 patients). Neither test alone had consistently high sensitivities, positive predictive values, or specificities. However, when NCS/EMG and muscle biopsy were concordant for neurogenic or myopathic findings, they were more accurate than either test alone, especially for neurogenic diseases. Test results were most commonly discordant in patients with "other" or unknown diagnoses. These findings suggest that when the clinical evaluation indicates a specific syndromic, developmental, or exogenous cause, NCS/EMG and muscle biopsy are not helpful and may not need to be performed. When the history, examination, and genetic evaluation are unrevealing, NCS/EMG and muscle biopsy together provide valuable diagnostic information.

Arthrogryposis↗
PubMedDate not supplied

Antenatal sonographic diagnosis of arthrogryposis multiplex congenita.

Arthrogryposis Multiplex Congenita (AMC) was suspected on ultrasound examination of a fetus at 30.5 weeks of gestation. The criteria for establishing this prenatal diagnosis as well as the importance of establishing the diagnosis at any gestational age are discussed. The diagnosis of AMC was confirmed at birth in this case.

Adult↗
PubMed1991

Prenatal diagnosis of congenital myasthenia with arthrogryposis in a myasthenic mother.

We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultrasonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted. Eight other cases of congenital myasthenia with arthrogryposis are known; four of them are siblings. The recurrence risk may be as high as 100 per cent. Our second case demonstrates that prenatal diagnosis is possible early enough to allow termination of pregnancy.

Adult↗
PubMed1992

Prenatal diagnosis of distal arthrogryposis type I by ultrasonography.

Two consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal diagnosis of the condition was made by ultrasound in the 17th week of gestation in one of the pregnancies, whereas in the subsequent pregnancy the disorder was excluded as early as 13 weeks' gestation. The diagnoses were verified at birth. The feasibility of prenatal diagnosis of DA type I in the second trimester is thus confirmed and its possibility in the late first trimester is suggested.

Adult↗
PubMed1981

Arthrogryposis-like signs in trisomy 18.

Two cases of newborn male infants afflicted with trisomy 18 and with signs of arthrogryposis multiplex congenita (AMC) are described. Anomalies occurring in most cases of trisomy 18 such as polyhydramnios, reduced foetal activity, and skeletal muscle hypoplasia decrease articular movements and, thus might cause AMC. Since AMC is rarely associated with trisomy 18, chromosomal aberration is not the only factor involved in these cases.

Arthrogryposis↗
PubMed1990

Hypoplasia of posterior spinal roots and dorsal spinal tracts with arthrogryposis multiplex congenita.

We report a male infant with arthrogryposis multiplex congenita (AMC) who survived for 19 weeks following birth at 36 weeks gestational age. No heritable or acquired cause of neuromuscular disease was found. He manifested joint contractures of upper and lower extremities, diffuse hypotonia requiring ventilatory support, and areflexia; the general examination also showed facial dysmorphisms, and an ichthyotic rash. Pathological examination of the brain and spinal cord revealed severe hypoplasia of dorsal roots and posterior columns, nondecussation of pyramidal tracts, and anterior horns of an unusual configuration; the brain was normal, and the cerebellum contained Purkinje cell heterotopias. Muscle spindles could not be identified. To our knowledge, these spinal cord abnormalities in association with AMC have not been previously reported, thus raising interesting speculations about the possible role of such abnormalities in the pathogenesis of AMC.

Arthrogryposis↗
PubMed1988

Decreased number of alpha-motoneurons in the cervical intumescence of calves with arthrogryposis multiplex congenita of both thoracic limbs.

The number of alpha-motoneurons in the spinal cord segments C6 to Th2 of five calves with Arthrogryposis Multiplex Congenita (AMC) and of five normal calves was compared. A statistically highly significant reduction in the number of alpha-motoneurons in segment C6 was observed in the affected calves. Two hypotheses to explain the effect of these findings were proposed. Firstly, it was thought that AMC may result from paresis of some muscles of the girdle, shoulder and elbow. Secondly, it was postulated that the decrease in the number of alpha-motoneurons in C6 may have induced a radial nerve dysfunction resulting in AMC.

Animals↗
PubMed1975

Serologic evidence for etiologic role of Akabane virus in epizootic abortion-arthrogryposis-hydranencephaly in cattle in Japan, 1972-1974.

In the outbreak of abortions, premature births, stillbirths and congenital arthrogryposis-hydranencephaly (AH) syndrome in Japan during the summer through winter of 1972-73 and 1973-74, precolostral sera from calves with congenital AH syndrome and normal calves were tested for neutralizing antibodies against some arboviruses, i.e. Akabane, Aino, Getah and Japanese encephalitis (JE) viruses. The incidence of antibody for Akabane virus was very high in calves with AH syndrome (49/59 or 83 per cent) as compared with normal calves (3/11 or 27 per cent), indicating an intimate correlation between the AH syndrome and precolostral anti-Akabane antibody. Three stillborn fetuses also had anti-Akabane antibody. On the other hand, no precolostral serum antibody for the other viruses was detected in any of the calves tested. The mothers of these calves, normal and with AH syndrome, had anti-Akabane antibody in high percentages (44/52 or 85 per cent and 7/8 or 88 per cent), whereas a few of the mothers had antibodies for the other viruses. Serological surveys indicate a wide dissemination of Akabane virus in epizootic areas during the summer months of 1972 and 1973. Thus, 8 groups of cattle in epizootic areas showed high rates of seroconversion for Akabane virus during the 1972 or 1973 summer. Very high incidences of Akabane antibody were shown among cattle in epizootic areas but extremely low incidences in near-by non-epizootic areas. The geographic distribution of anti-Akabane antibody among cattle throughout the country in the 1973 spring generally agrees with the pattern of case distribution in the 1972--73 outbreak. All these findings strongly suggest that Akabane virus is the etiological agent of the outbreaks. Further studies are needed, particularly isolation of the virus, demonstration of infection with the virus in lesions by immunofluroescence and production of intrauterine infection by experimental infection of pregnant cows.

Abortion, Veterinary↗