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At least 19 recordsLinked to original sources
PubMed1993

Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.

Arthrogryposis multiplex congenita is a heterogeneous condition and many different types are clinically recognisable. Recently, a new type of autosomal dominant arthrogryposis was described in a father and son. We report on a male patient with similar clinical features, confirming this distinct type of arthrogryposis. The condition is characterised by congenital contractures of the hands and feet with diminished or absent phalangeal creases, ophthalmoplegia, a rigid trunk, deep set eyes, and (in the oldest patient) an abnormal electroretinogram. Differential diagnosis from amyoplasia, the different types of distal arthrogryposis, and symphalangism is discussed.

Adolescent↗
PubMed2000

Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis?

We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple distal arthrogryposis (DA), peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence and karyotypes. The parents were cousins once removed. The combination of the clinical manifestations in the patients and the lack of involvement in their parents are incompatible with any known types of DA, and suggest a new type of DA. The parental consanguinity in the family suggests that the disorder is an autosomal recessive condition, although X-linked inheritance is not ruled out.

Arthrogryposis↗
PubMed1982

Three distinct types of X-linked arthrogryposis seen in 6 families.

Six families with arthrogryposis (congenital contractures) inherited in an X-linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, three probands had family histories consistent with X-linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X-linked recessively inherited arthrogryposis are described: (1) Severe lethal X-linked arthrogryposis with severe contractures scoliosis deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2) Moderately severe X-linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3) Resolving X-linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).

Arthrogryposis↗
PubMed1989

Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II?

We report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type II distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type II distal arthrogryposis.

Abnormalities, Multiple↗
PubMed1997

Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation.

This study examines the ultrasonographic features of congenital lethal arthrogryposis. In 27 cases of arthrogryposis diagnosed in the second and third trimesters there was severe bilateral talipes, fixed flexion deformities of the wrists and elbows and either fixed flexion or extension of the knees. In seven (26%) of the cases there was nuchal edema. In two fetuses with arthrogryposis that were examined at 13 weeks of gestation the nuchal translucency thickness was above the 99th centile of the normal range for crown-rump length. In three other women with previously affected pregnancies, ultrasound examination at 10-14 weeks demonstrated normal fetal nuchal translucency thickness and none of these fetuses were subsequently found to have arthrogryposis. These findings suggest that lethal arthrogryposis, which is usually diagnosed by the demonstration of multiple joint contractures during the second or third trimester of pregnancy, may present as increased nuchal translucency thickness at 10-14 weeks of gestation.

Adult↗
PubMed2007

Genetics of arthrogryposis: linkage analysis approach.

Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of congenital contracture syndromes, some of which are hereditary. To date, four genetic loci associated with autosomal recessive arthrogryposis syndromes have been identified using the powerful tools of genome-wide linkage analysis and homozygosity mapping. In the consanguineous inbred Bedouin population in southern Israel there is an unusually high incidence of hereditary arthrogryposis. We hypothesized the high incidence of this phenotype in this specific cohort might be due to a founder effect: a mutation that occurred several generations ago, spread throughout various tribes in that population in recent generations and causes the phenotype in its homozygous form. Using linkage analysis studies, we showed the hereditary arthrogryposis in those tribes does not stem from a single genetic defect. Thus, there is genetic heterogeneity of congenital arthrogryposis in this population: the same phenotype is caused by mutations in different genes, yet to be unraveled.

Arthrogryposis↗
PubMed2000

Congenital arthrogryposis: an inherited limb deformity in pedigree Suffolk lambs.

Thirty of 52 pedigree Suffolk lambs (58 per cent) were born with arthrogryposis characterised by bilateral flexion rigidity of the metacarpophalangeal and carpal joints. The recent introduction of a breeding ram was identified as the only significant risk factor in the flock, and embryo transfer was used to test the hypothesis that the arthrogryposis was an inherited disorder associated with the introduction of this ram. Two adult ewes that had previously produced lambs with arthrogryposis by the ram and four of its affected daughters were available as donors, and 20 crossbred ewes were used as recipients. Ten Suffolk-crossed ewes that had no known familial relationship with the ram were also mated by the ram as controls and they produced 10 normal lambs. Following embryo transfer, 19 lambs were born, of which seven were stillborn; arthrogryposis was evident in 10 of the 12 live lambs. Analysis of the data suggested that in the population under study, arthrogryposis was inherited as an autosomal recessive condition.

Animals↗
PubMedDate not supplied

Arthrogryposis wrist deformities: results of infantile serial casting.

Arthrogryposis multiplex congenita involving the upper extremity can be associated with significant contractures of major joints. Treatment options to maximize upper extremity motion and function include passive joint stretching, serial casting, or surgical intervention. This study reviewed all patients at Carrie Tingley Hospital with arthrogrypotic wrist flexion contractures treated with passive stretching, serial casting, and custom wrist orthotics to determine the effect on wrist position and function. Seventeen infant patients with distal and classic arthrogryposis used this regimen. Average follow-up was 6 years. The greatest gain in wrist motion occurred after the first casting session for both groups. Patients with distal arthrogryposis had the largest improvement in passive wrist motion, were more functionally independent at final follow-up, and had no recurrence of deformity. Patients with classic arthrogryposis had rigid wrist flexion contractures and a 75% incidence of deformity recurrence after casting. At final follow-up, these patients remained functionally dependent, requiring >50% assistance with activities of daily living, and had less improvement in wrist motion. The authors recommend early casting of infant wrist deformities for both forms of arthrogryposis. If the wrist deformity recurs, repeat serial casting is unlikely to improve wrist extension. Other treatment options may be considered in the older child.

Activities of Daily Living↗
PubMed1998

Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome.

Arthrogryposis is a heterogeneous birth defect characterized by limitation of movement at multiple joints. One in 3,000 infants is born with arthrogryposis, and at least a third of these cases have a genetic cause. Four distinct types of X-linked arthrogryposis have been reported, and a severe lethal form recently was mapped to Xpll.3-qll.2. We now report an extended family affected with a novel variant of X-linked arthrogryposis that involves only the lower limbs. Linkage analysis with polymorphic DNA markers maps the disease locus in this unique family to the long arm of the human X chromosome between DXS1220 and DXS1205 in Xq23-27.

Alleles↗
PubMed1995

Dominant distal arthrogryposis in a Maori family with marked variability of expression.

The index case was a Maori bushman who presented with severe congenital spinal stenosis and manifestations of distal arthrogryposis. His offspring and 8 of his 9 sibs and most of their offspring were interviewed and examined. Of those examined 7 individuals with definite and 2 with probable distal arthrogryposis were identified in 4 of the families. A tenth relative with distal arthrogryposis and contractural arachnodactyly had died. There was marked variability in the severity and nature of manifestations with 2 having severe hand and foot involvement in addition to craniofacial changes compatible with a diagnosis of Freeman-Sheldon syndrome. Other apparently unrelated hereditary disorders in the family included ectrodactyly, biliary atresia, and Brachmann-de Lange syndrome. This is the first report of arthrogryposis in a Maori family.

Adult↗
PubMed2006

Bilateral discoid medial menisci accompanied by distal arthrogryposis: a case report.

Discoid meniscus shows a propensity for the lateral side, and bilateral discoid medial meniscus is extremely rare. The present patient had a history of windblown hand and clubfoot, and bilateral discoid medial meniscus was associated with distal arthrogryposis. There has been no previous case report about the coexistence of meniscal abnormalities and distal arthrogryposis. While the association between distal arthrogryposis and meniscal abnormalities is unknown, it is interesting that discoid medial meniscus (a rare meniscus abnormality) occurred in the presence of arthrogryposis. We performed bilateral arthroscopic partial meniscectomy (reshaping) to treat discoid meniscus in this case, and the patient used outer wedge arch supports postoperatively. Neither relapse of meniscal symptoms nor arthrosis has occurred postoperatively in this patient, but long-term follow-up is considered to be necessary.

Abnormalities, Multiple↗
PubMed1983

Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis.

The lumbosacral cord segments of 10 infants with varying clinical forms of neurogenic arthrogryposis were compared with similar spinal cord segments from an infant with congenital contractures secondary to uterine constraint, 8 infants with Werdnig-Hoffman syndrome, and 11 age-matched controls. Neuronal numbers, sizes, and distribution were measured within the anterior horns. In addition to the classical reduction in the numbers of alpha motor neurons in both pathologic states, this study found the smaller neurons of the anterior horn were absent or diminished in Werdnig-Hoffman syndrome, while those cells were present in increased numbers with abnormal histology in all the patients with arthrogryposis. In 5 of the patients with arthrogryposis, the pathologic pattern was consistent throughout each cord segment; in 5 others, normal alpha neurons were retained and unequally distributed in the anterior horn segments. This unequal distribution predicted the muscle group involvement and suggested the mechanism for intrauterine joint fixation in these patients. The pathologic changes in the patients with arthrogryposis appear to be unique in spite of the heterogeneity of etiology and the clinical presentation.

Anterior Horn Cells↗
PubMed1983

A case of asymmetrical arthrogryposis--a clinical study and a preliminary report on the value of CT-scanning.

Following the introduction of the conception that arthrogryposis is a symptom and not a clinical entity, a case of the very rare asymmetric form of neurogenic arthrogryposis is presented. The asymmetry of congenital contractures and weakness is associated with hemihypotrophy. The value of muscular CT-scanning prior to muscle biopsy is demonstrated. Muscular CT-scanning shows the extension of adipose tissue, which has replaced damaged muscles and thereby indicates the exact site for muscle biopsy. Since orthopaedic treatment in arthrogryposis can be unrewarding due to severe muscular degeneration, preoperative scanning may provide additional important information on muscular function and thus be of benefit for surgery. The advantage of muscular CT-scanning in other forms of arthrogryposis requires further determination. The differential diagnosis with Werdnig-Hoffmann disease is discussed.

Arthrogryposis↗
PubMed1984

The heterogeneity of distal arthrogryposis.

A study of distal arthrogryposis is described including neurology, electromyography, cerebral and muscular CT-scanning, and muscle and nerve biopsies. In four cases presenting with congenital distal contractures, various neuromuscular disorders were diagnosed. They were respectively, congenital myopathy with core-like structures, congenital hypertrophic neuropathy, axonal neuropathy and anterior horn cell disease. The role of cerebral disorders in the pathogenesis of distal contractures is also considered. The significance of abnormal dermatoglyphics in the determination of the prenatal time of onset of congenital myopathies and arthrogryposis is discussed. Our findings provide evidence for the hypothesis that distal arthrogryposis may not be a distinct clinical entity with an autosomal dominant inheritance pattern, but a symptom, indicating various cerebral, neuromuscular and connective tissue disorders, present in numerous congenital syndromes with different modes of inheritance. In addition the value of electromyography, nerve conduction velocity studies, muscle and cerebral CT-scanning, and histology of muscle and nerve biopsies in the differential diagnosis of (distal) arthrogryposis is stressed.

Adolescent↗
PubMed1997

The spectrum of arthrogryposis in 33 chinese children.

The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = 18), distal arthrogryposis syndrome (n = 2) and Streeter syndrome (n = 1); group II (limb involvement with other malformation or anomalies; n = 7) having congenital contractural arachnodactyly (n = 3), Larsen syndrome (n = 1), multiple pterygium syndrome (n = 1), craniocarpotarsal dystrophy (n = 1), and Schwartz Jampel syndrome (n = 1); and group III (limb involvement with central nervous system dysfunction or mental retardation; n = 5) having myotonia dystrophica (n = 2), congenital muscular dystrophy (n = 1), foetal alcohol syndrome (n = 1) and Pena-Shokeir syndrome (n = 1). Three children died, one each of arthrogryposis multiplex congenita, congenital contractural arachnodactyly and myotonia dystrophica. The majority had a good prognosis with independent function and mobility.

Abnormalities, Multiple↗
PubMed1998

Arthrogryposis multiplex congenita in Western Australia.

OBJECTIVE: Determination of the prevalence of arthrogryposis multiplex congenita in Western Australia as well as the causes of the condition. Overseas reports varied considerably and no such survey had been conducted in Western Australia. METHODOLOGY: Case names were obtained from various registers and records as well as from private practitioners covering the 14 years birth cohort between 1980 and 1993. The records, and where possible the patients, were seen by one of the authors. Diagnosis was further established through relevant investigation where possible. RESULTS: Thirty cases were identified, giving a birth prevalence of approximately 1 in 12000. In nine cases there were significant abnormalities of the central nervous system, in seven cases anterior horn cell and/or peripheral nervous involvement was the cause and in three there was primary muscle disease. The remaining 11 had various syndromes for which no definite neuropathological lesions could be demonstrated, but most of these had syndromes such as distal arthrogryposis or amyoplasia. Mortality was 37%. Talipes occurred in 23 of 30 cases. Early intervention and, in more severe cases, radical surgical intervention was the management adopted in most cases. CONCLUSION: The birth prevalence of arthrogryposis in Western Australia is somewhat less than that reported in Canada and Finland but somewhat greater than the Edinburgh figures, which appear to be the extremes quoted in the literature. Prognosis is worse in cases with serious central nervous system involvement and/or chest involvement, and better in cases of localised arthrogryposis (e.g. distal), as well as in the specific syndrome of amyoplasia as described by Hall.

Arthrogryposis↗