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PubMed1982

Familial arthrogryposis with distal involvement of the limbs.

Five cases of arthrogryposis multiplex congenita in two families characterized by autosomal dominant inheritance, intrafamilial variability and primary involvement of the distal part of the limbs were analyzed to suggest that this condition is comparable to previously reported cases classified as distal arthrogryposis or digitotalar dysmorphism. These patients may represent a specific clinical entity. Heritable disorders should be distinguished from other forms of arthrogryposis for purposes of genetic counseling as well as therapeutic management.

Arthrogryposis↗
PubMed1981

Separating monosomy-21 from the "arthrogryposis basket".

An infant with monosomy-21 lived for 20 minutes. The clinical and radiologic findings suggested arthrogryposis, Infants with monosomy-21 have severe intrauterine growth retardation, failure to thrive, arthrogryposis-like findings with restriction of joint mobility, often with joint dislocations, and flexion deformities and malposition of the fingers and toes. Features which help to distinguish it from arthrogryposis include a rather specific craniofacial configuration with a broad base of the nose, an antimongoloid slant of the palpebral fissures, a down-turning mouth shaped like that of a carp, micrognathia, and large low-set ears. The condition is not associated with advanced maternal age. Radiologic findings to date have been quite variable.

Abnormalities, Multiple↗
PubMed1994

[The study of afferentation in arthrogryposis].

The electroneurograms of the tibial and median nerve in children with arthrogryposis have been performed; excitability curves which characterizes the function of the nerves were recorded. Afferent conduction velocity in 30 examined nerves showed statistically significant slowing down. An amplitude of evoked potentials in the tibial and median nerves was decreased but the difference compared to the control group was not statistically significant. Histograms based on electroneurography indicate existence of two groups of results, that might reflect neurogenic and/or myogenic origin of arthrogryposis. Excitability curve has been moved upwards and to the right in one point only, characterizing the tibial nerve function; in 5 remaining points the differences with controls were not significant. All-over results indicate subclinical afferentation impairment within lower extremities in children with arthrogryposis.

Adolescent↗
PubMed1994

An approach to ventilator-dependent neonates with arthrogryposis.

OBJECTIVE: To identify the clinical factors and/or test results necessary to determine the diagnosis and prognosis for a group of neonates who presented with respiratory insufficiency and multiple contractures. METHODS: We performed a retrospective review of medical records and identified 15 newborns over a 10-year period (1980 through 1990) who had arthrogryposis multiplex congenita and required ventilator support at birth. We designed a 104 item data base to record clinical information; this was subsequently analyzed using the Clinfo data base program for statistical analysis. RESULTS: Fourteen of the 15 patients died. Of the fourteen, 13 were electively extubated after a variable time course (2 hours to 64 days). Autopsies performed on all 14 revealed an approximately equal distribution of central nervous system (CNS) malformations, peripheral neuropathies, and peripheral myopathies as the etiology. The single survivor had myasthenia gravis. CONCLUSION: In neonates with arthrogryposis, ventilator dependence at birth carries a poor prognosis. Prenatal factors that potentially predict respiratory insufficiency for the fetus with arthrogryposis include decreased fetal movements, polyhydramnios, micrognathia, and thin ribs. The combination of a thorough physical examination and radiographic and neuromuscular studies may not result in a specific diagnosis, but it can indicate whether the abnormality is in the CNS, peripheral nerves or muscles. Before elective withdrawal of ventilatory support, an edrophonium chloride challenge test should be performed to rule out myasthenia gravis.

Arthrogryposis↗
PubMed1997

Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome?

We report on an 8-year-old boy with clinical manifestations suggestive of a new arthrogryposis syndrome. These included characteristic craniofacial abnormalities, cleft palate, arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings. There was no intrauterine growth retardation or decreased fetal movements. Despite the poor prognosis expected in early life, the patient presented with normal mental capability on follow-up. Family data showed that a maternal first cousin of the mother (mother's brother's son) had similar findings and died in infancy. Differential diagnosis included Pena-Shokeir syndrome or phenotype, Gordon syndrome, Marden-Walker syndrome, and the syndrome of arthrogryposis with ophthalmoplegia and retinopathy. The possibility of autosomal dominant inheritance with reduced penetrance is suggested for this apparently new syndrome.

Abnormalities, Multiple↗
PubMed1996

Arthrogryposis associated with unsuccessful attempts at termination of pregnancy.

We report three cases of failed termination of pregnancy in which the children were subsequently born with arthrogryposis (AMC) (multiple congenital contractures). Arthrogryposis is a sign with many causes. We suggest that the multiple congenital contractures seen in these children are due to vascular compromise during the attempted termination with secondary loss of functional neurons leading to fetal akinesia and subsequent contractures. Two of the children have additional evidence of intrauterine vascular compromise. Limitation of movement secondary to the rupture of the fetal membranes and continuous leakage of amniotic fluid after the attempted termination may have compounded the contractures in two of the children.

Abortion, Incomplete↗
PubMed1985

An unusual distal arthrogryposis.

We report on a mother and her dizygotic twin fetuses who were affected with distal arthrogryposis. In addition the mother has cervical vertebral anomalies, scoliosis, short stature, nuchal and axillary pterygia, and unusual facial appearance. The fetuses had a short neck, pterygium colli, retrognathia, and mild apparent scoliosis. We think that these three individuals have a previously undescribed type of distal arthrogryposis.

Adult↗
PubMed1987

Distal arthrogryposis type II D in three generations of a Brazilian family.

We report on three members of a Brazilian family with distal arthrogryposis type II D. This autosomal dominant trait was described by Hall et al [1982] and is characterized by scoliosis without associated vertebral anomalies and distal contractures. To the best of our knowledge, this family is the second literature report of distal arthrogryposis type II D.

Adult↗
PubMed1988

Prenatal diagnosis of distal arthrogryposis.

We report the prenatal diagnosis of distal arthrogryposis type I by ultrasound at 18 wk gestation in a family with two other affected members (mother and sister of the fetus). The pregnancy was followed with serial ultrasounds, and the diagnosis was confirmed after birth. The clinical findings in all affected family members are described. A literature survey of prenatally diagnosed cases of multiple joint contractures is presented. These include cases with many different diagnoses. This is the first report of the prenatal diagnosis of distal arthrogryposis type I. It helps to illustrate the variability and prenatal natural history of the condition and the subtlety of the prenatal ultrasound findings.

Adult↗
PubMed1991

Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity.

We report on 3 unrelated patients with the heterogeneous fetal hypokinesia sequence. They have distal arthrogryposis, severe developmental retardation, facial anomalies as seen in the Freeman-Sheldon syndrome ("whistling face"), and Pierre Robin sequence. The present cases show a remarkable clinical resemblance to the 3 sibs described by Illum et al. (Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bersen A (1988): Neuropediatrics 19:186-192), where calcium deposits were found in the nervous system and skeletal muscle. The presence of severe to profound developmental retardation in the present 3 patients is equally in favour of a central nervous system abnormality as the pathogenetic basis of the fetal hypokinesia sequence with secondary facial changes and distal arthrogryposis.

Arthrogryposis↗
PubMed2006

A new distal arthrogryposis syndrome characterized by plantar flexion contractures.

The distal arthrogryposis (DA) syndromes are a distinct group of disorders characterized by contractures of two or more different body areas. More than a decade ago, we revised the classification of DAs and distinguished several new syndromes. This revision has facilitated the identification of five genes (i.e., TNNI2, TNNT3, MYH3, MYH8, and TPM2) that encode components of the contractile apparatus of fast-twitch myofibers and cause DA syndromes. We now report on the phenotypic features of a novel DA disorder characterized primarily by plantar flexion contractures in a large five-generation Utah family. Contractures of hips, elbows, wrists, and fingers were much milder though they varied in severity among affected individuals. All affected individuals had normal neurological examinations; electromyography and creatinine kinase levels were normal on selected individuals. We have tentatively labeled this condition distal arthrogryposis type 10 (DA10).

Adolescent↗
PubMed1993

Early prenatal sonographic diagnosis of neuropathic arthrogryposis multiplex congenita with osseous heterotopia.

A prenatal diagnosis of arthrogryposis multiplex congenita (AMC) has been carried out on a 19-week-old fetus by means of echography. The ultrasonographic characteristics were unnatural position of the four limbs associated with articular anomalies together with absence of active fetal movements. A therapeutic interruption of pregnancy was performed and the diagnosis was confirmed. At autopsy, architectural disorder of the motor neurons of the anterior medullary horn revealed a neuropathic pathogenesis of the arthrogryposis. Moreover, at the lumbar level the spinal cord was progressively replaced by heterotopic bony tissue which caused a more severe deformity of the lower limbs compared with the upper. The aspects of anatomo-pathological, genetic, and differential diagnosis are discussed showing the precocity of the prenatal diagnosis and the peculiarity of the aetiology of our case.

Abortion, Therapeutic↗
PubMed1992

Further evidence that arthrogryposis multiplex congenita in the human sometimes is caused by an intrauterine vascular accident.

A 7 1/2-year-old girl with arthrogryposis multiplex congenita of the amyoplasia type in association with intestinal atresias, gastroschisis, Möbius anomaly, and hypoplasia of the pectoral, biceps, and deltoid muscles is described. Several combinations of these birth defects have been previously described. There is considerable evidence that gastroschisis, intestinal atresia, Poland sequence, and Möbius anomaly each has a vascular pathogenesis. Based on the associations seen in this child and past reports of more limited, similar cooccurrences, we suggest that arthrogryposis multiplex congenita may sometimes be caused by an intrauterine vascular catastrophe.

Abdominal Muscles↗
PubMed1985

Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita.

Two unrelated patients with severe arthrogryposis multiplex congenita (AMC) who died perinatally, are presented. In both, postmortem examination revealed an intact nervous system and striking dystrophic muscle changes, consistent with congenital muscular dystrophy (CMD). Few similar cases have been reported before, but since the condition is not well known, it seems probable that in the past many have been labeled as mere multiple malformations. The possibility of an underlying muscular disorder, either primary myopathic or neurogenic should be considered in any patient with early lethal AMC. Our findings confirm that the fetal akinesia-arthrogryposis sequence is a nonspecific clinical syndrome resulting from various causes of muscular inactivity in utero. The main objective of this report is to provide reasonable guidelines on how to approach the problem of classification. We favor a pathogenetic approach, depending upon careful sampling of the central nervous system and skeletal muscles at autopsy.

Abnormalities, Multiple↗
PubMed1999

Prenatal diagnosis of distal arthrogryposis type 1.

A 23-year-old woman, gravida 1 parity 0, was referred for routine ultrasound examination at 23 weeks gestation. Fetal anatomy was normal. However, both hands demonstrated clasped thumbs without extension. Repeated ultrasound examination verified the bilateral hands posture. The position of the hands did not change following sound stimulation. The child was diagnosed as distal arthrogryposis type 1. Prenatal counselling by the pediatric orthopedic surgeon, geneticist and gynecologist, was provided, to inform the parents on the probable outcome of the fetus and the hands. The parents were advised to continue with the pregnancy. A 1,975-g healthy boy was delivered by spontaneous vaginal delivery. Neonatal examination confirmed the prenatal diagnosis of arthrogryposis type 1. Following reconstructive surgery the child functions well with both his hands.

Adult↗
PubMed2004

Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to chromosome 5 by linkage analysis.

Arthrogryposis multiplex congenita (AMC), defined as permanent joint contractures present at birth, is one of the most common congenital defects in piglets and other mammals. A genetic form of arthrogryposis was recently identified in Swiss Large White (LW) pigs. The disease is controlled by a single autosomal recessive allele designated as amc. At least 14 LW AI (artificial insemination) boars (about 25% of the Swiss population) are known to be carriers of the amc allele. A total of 219 pigs were used for linkage analysis, including seven founders (F1), three F0, 160 F2, and 49 F3 animals. All founder pigs were full or half sibs. Of the 219 pigs, 41 (18.7%) were found to be affected, while the remaining 178 (81.3%) were healthy. A comprehensive genome scan revealed that microsatellite SW1987 located on pig (Sus scrofa) Chromosome 5 (SSC5), was linked with AMC. Sixteen additional SSC5 microsatellites were selected for further genotyping to generate a multipoint map covering the AMC region. Significant pairwise linkage (LOD > 6.00) was found for AMC and eight marker loci. The order that best fit with the data was SW963-SW1987-SW152-AMC-(SW904, SW1094)-SWR1526-(SWR1974, SW310). AMC was mapped by linkage analysis to the position 92 cM, between SW152 and SW904/SW1094, which are located on SSC5 in bands q12-q23.

Animals↗
PubMed1995

Lethal arthrogryposis with anterior horn cell disease.

Fifteen infants (11 families) with lethal arthrogryposis and anterior horn motor neuron loss are described. The clinical presentation was the fetal akinesia deformation sequence (FADS) with multiple contractures and facial anomalies. At autopsy neurogenic muscular atrophy was present in all infants. The spinal cord showed a paucity of anterior horn motor neurons in the 12 infants studied. Both male and female infants were affected. Nine cases were sporadic, whereas in two families there were three affected cases. Consanguinity between the parents was reported in one family with one affected child. This and the recurrence of the condition speak for autosomal recessive inheritance. Detailed neuropathological examination and documentation of the clinical features are needed for a better delineation of and genetic counseling for perinatally lethal arthrogryposis.

Arthrogryposis↗
PubMed1985

A cerebral cause of arthrogryposis: unilateral cerebral hypoplasia.

The authors describe a case of predominantly right-sided arthrogryposis in an infant with contralateral congenital cerebral hypoplasia and associated unilateral hydrocephalus. Diagnosis was made by prenatal ultrasonography and confirmed by postnatal cerebral CT-scanning. In addition to a variety of congenital neuromuscular disorders, arthrogryposis may be caused by disorders of the central nervous system. Hence, in the diagnostic approach of newborns with congenital contractures, cerebral malformations must be considered.

Abnormalities, Multiple↗