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PubMed2005

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman.

We report on six Omani children from two consanguineous families, with a multiple congenital anomaly syndrome defined by arthrogryposis multiplex congenita, typical facial appearance, ophthalmologic anomalies, atrophic calf muscles, and interdigital, neck and axillar pterygia. In addition, the patients present unique features as a furrowed tongue and enlarged corneal nerves, undescribed previously in association with other distal arhtrogryposis syndromes (DA). The patients can be classified as multiple pterygium syndrome (Escobar syndrome) but display overlapping features with Freeman-Sheldon syndrome and arthrogryposis with ophthalmologic abnormalities. We excluded two known arthrogryposis loci on chromosome 9p13 (TPM2) and 11p15 (TNNI2, TNNT3). We conclude that our patients display a subtype of multiple pterygium syndrome with overlapping features to other DAs.

Abnormalities, Multiple↗
PubMed2003

Comparative FISH-mapping of the survival of motor neuron gene (SMN) in domestic bovids.

A comparative fluorescence in situ mapping of the SMN gene was performed on R-banded chromosome preparations of cattle (Bos taurus, BTA, 2n = 60), river buffalo (Bubalus bubalis, BBU, 2n = 50), sheep (Ovis aries, OAR, 2n = 54) and goat (Capra hircus, CHI, 2n = 60), as well as on those of a calf from Piedmont breed affected by arthrogryposis. SMN was located on BTA20q13.1, OAR16q13.1, CHI20q13.1 and BBU19q13. These chromosomes and chromosome bands are believed to be homeologous, confirming the high degree of chromosome homeologies among bovids. The position of SMN was refined in cattle, compared to the two previous localizations, while it is a new gene assignment in the other three bovids. A comparative fiber-FISH performed on extended chromatin of both normal cattle and calf affected by arthrogryposis revealed more extended FITC signals in the calf, compared to the normal cattle (control), suggesting a possible duplication of the SMN gene in the calf affected by arthrogryposis. .

Animals↗
PubMed1987

German syndrome in sibs.

We present a male-female sib pair born to Ashkenazi Jewish parents with "arthrogryposis," hypotonia-hypokinesia sequence and lymphedema. Of all the "arthrogryposis" hypotonia syndromes, the condition in these sibs appears to be most like that of the patients of German et al [1975] and the patient of Salmon [1978]. They appear to be the first sib pair with German syndrome, which suggests autosomal recessive inheritance. Three of the four known families with affected children have been Ashkenazi Jews.

Abnormalities, Multiple↗
PubMed2004

Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.

A subset of patients with type 2 Gaucher disease is characterized by intrauterine onset of rapidly progressive neuropathic disease, arthrogryposis, hydrops fetalis and in some cases restrictive dermopathy. beta-Glucocerebrosidase (beta-glucosidase) activity is usually low or undetectable. In most cases death ensues either in-utero or within hours or days after birth. We report on an infant born to non-consanguineous parents of Caucasian origin presenting at birth with hydrops, arthrogryposis, severe respiratory distress, hepatosplenomegaly, and liver failure. Death occurred within several hours after delivery and autopsy revealed typical Gaucher cells in multiple organs in combination with severe apoptotic neurodegeneration throughout the brain. beta-Glucocerebrosidase activity was 1% of the norm in fibroblasts and a novel heterozygous insertion c.1515_1516insAGTGAGGGCAAT was identified by genomic sequencing and an insertion-specific seminested PCR. In addition, molecular studies revealed a previously described in type 1 Gaucher disease missense mutation c.476G --> A which results in a heterozygous substitution of R120Q. Our observations confirm considerable genotypic heterogeneity in patients with type 2 Gaucher disease. The transheterozygous combination of a mutation, previously described in type 1 Gaucher disease, together with a newly identified insertion may result in this severe phenotype.

Age of Onset↗
PubMed2006

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.

Trismus-pseudocamptodactyly syndrome (TPS) is a rare autosomal dominant distal arthrogryposis (DA) characterized by an inability to open the mouth fully (trismus) and an unusual camptodactyly of the fingers that is apparent only upon dorsiflexion of the wrist (i.e., pseudocamptodactyly). TPS is also known as Dutch-Kentucky syndrome because a Dutch founder mutation is presumed to be the origin of TPS cases in the Southeast US, including Kentucky. To date only a single mutation, p.R674Q, in MYH8 has been reported to cause TPS. Several individuals with this mutation also had a so-called "variant" of Carney complex, suggesting that the pathogenesis of TPS and Carney complex might be shared. We screened MYH8 in four TPS pedigrees, including the original Dutch family in which TPS was reported. All four TPS families shared the p.R674Q substitution. However, haplotype analysis revealed that this mutation has arisen independently in North American and European TPS pedigrees. None of the individuals with TPS studied had features of Carney complex, and p.R674Q was not found in 49 independent cases of Carney complex that were screened. Our findings show that distal arthrogryposis syndromes share a similar pathogenesis and are, in general, caused by disruption of the contractile complex of muscle.

Amino Acid Sequence↗
PubMed1993

Evaluation of developmental toxicity of coniine to rats and rabbits.

Conium maculatum (poison hemlock, CM) is teratogenic in several domestic species, presumably due to its piperidine alkaloids, including coniine, which has been verified to be teratogenic in cattle. Coniine/CM teratogenicity culminates in production of arthrogryposis. The purpose of this study was to evaluate coniine-induced teratogenicity in two laboratory animal species, Sprague-Dawley rats and New Zealand white rabbits. Pregnant rats were given coniine (25 mg/kg body weight) by oral gavage at 8-hour intervals on gestation days 16-18. Pregnant rabbits were given coniine (40 mg/kg body weight) by oral gavage at 8-hour intervals on gestation days 20-24. Rats were killed on day 19 and rabbits on day 29. Fetuses were immediately removed, weighed, and examined for external abnormalities. Alternate fetuses were either stained for skeletal examinations with alizarin red-S or fixed in Bouin's solution for visceral examination. Symptoms of maternal intoxication due to coniine administration were observed in both the rat and the rabbit, and higher doses were uniformly lethal. Rabbits treated with coniine appeared to lose more weight and eat less than controls, but there was no statistically significant difference between groups. Fetal weights were significantly lower in coniine-exposed rat and rabbit fetuses indicating fetotoxicity. The only statistically significant treatment-related visceral or skeletal malformation was a reduction of cranial ossification of rabbit fetuses, probably related to maternal toxicity. Coniine-exposed rabbit litters tended to be affected by arthrogryposis (no bony deformities noted on skeletal exam) more than controls (2/6 vs. 0/9).

Abnormalities, Drug-Induced↗
PubMed2004

The Steindler flexorplasty for the arthrogrypotic elbow.

PURPOSE: The arthrogrypotic elbow often lacks active flexion. If active elbow flexion can be provided by muscle transfer, patient independence increases and the patient can function in a less conspicuous manner by avoiding adaptive mechanisms. The purpose of this article is to review the outcome of patients with arthrogryposis treated with the Steindler flexorplasty to obtain active elbow flexion. METHODS: Seventeen elbows in 10 patients with an average age of 7 years were treated surgically with the Steindler flexorplasty procedure. Before surgery none of the patients was able to flex actively the elbow against gravity. All of the patients had at least 70 degrees of passive elbow flexion. Upper-extremity active and passive range of motion, strength of flexion, functional outcome, and patient satisfaction were assessed at an average of 5 years after surgery (range, 2-9 years). RESULTS: After surgery all patients obtained active elbow flexion against gravity averaging 85 degrees (range, 30 degrees -120 degrees ); patients were able to lift an average of 1 kg through their entire arc of elbow flexion. At last follow-up evaluation patients lost an average of 27 degrees of elbow extension. Patients lost forearm rotation but did not lose wrist or finger range of motion. Subjectively, 9 of the 10 patients were satisfied with the outcome of the surgery and would recommend the surgery to others. CONCLUSIONS: The Steindler flexorplasty provides improved elbow flexion strength and patient function and should be considered for children with arthrogryposis.

Activities of Daily Living↗
PubMed1978

Hyperthermia as a possible teratogenic agent.

Hyperthermia has been shown to be a teratogenic agent in a number of animal species. We have attempted to determine if maternal hyperthermia during early gestation might also be responsible for problems in human development. Eight retrospectively ascertained cases, in which high fever had occurred at four to six weeks' gestation, revealed a similar clinical phenotype in the infants despite the fact that the maternal fever was caused by different infections. The most consistent manifestations were severe mental deficiency, seizures, hypotonia, microphthalmia, midface hypoplasia, and mild impairment of distal limb development. In five patients exposed to hyperthermia at seven to 16 weeks' gestation, predominant features were hypotonia, neurogenic arthrogryposis, and central nervous system dysgenesis. The cause of fever differed in each of these cases; in one, a patient with neurogenic arthrogryposis, the hyperthermia had been induced in a sauna bath. No apparent serious problem in morphogenesis was found following hyperthermia during the latter half of gestation. These findings are similar to those resulting from induced hyperthermia in animals. Further research on the effects of hyperthermia in the developing human being seems warranted.

Abortion, Spontaneous↗
PubMed1998

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy.

BACKGROUND: Misoprostol is commonly used to induce abortion in Brazil, and in other countries in South and Central America where abortions are illegal. However, misoprostol is not very effective in inducing abortions, and exposure to the drug in utero can cause abnormalities in the fetus. We aimed to define the common phenotypical effects of exposure to the drug. METHODS: We studied 42 infants from São Paulo, Brazil, who were exposed to misoprostol during the first 3 months of gestation, and then born with congenital abnormalities. We interviewed each of the infants' mothers to find out about misoprostol exposure and dosage. Each infant was physically examined by a geneticist or a neuropaediatrician. FINDINGS: 17 of the infants had equinovarus with cranial-nerve defects. Ten children had equinovarus as part of more extensive arthrogryposis. The most distinctive phenotypes were arthrogryposis confined to the legs (five cases) and terminal transverse-limb defects (nine cases) with or without Mobius sequence. The most common dose of misoprostol taken was 800 microg (range 200-16000 microg). INTERPRETATION: Deformities attributed to vascular disruption were found in these children. We suggest that the uterine contractions induced by misoprostol cause vascular disruption in the fetus, including brain-stem ischaemia. Information on the effects of taking misoprostol during pregnancy should be made more widely available, to dissuade women from misusing the drug.

Abnormalities, Drug-Induced↗
PubMed2006

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) antibodies from myasthenic mothers. We performed linkage studies in families with Escobar syndrome and identified eight mutations within the gamma -subunit gene (CHRNG) of the AChR. Our functional studies show that gamma -subunit mutations prevent the correct localization of the fetal AChR in human embryonic kidney-cell membranes and that the expression pattern in prenatal mice corresponds to the human clinical phenotype. AChRs have five subunits. Two alpha, one beta, and one delta subunit are always present. By switching gamma to epsilon subunits in late fetal development, fetal AChRs are gradually replaced by adult AChRs. Fetal and adult AChRs are essential for neuromuscular signal transduction. In addition, the fetal AChRs seem to be the guide for the primary encounter of axon and muscle. Because of this important function in organogenesis, human mutations in the gamma subunit were thought to be lethal, as they are in gamma -knockout mice. In contrast, many mutations in other subunits have been found to be viable but cause postnatally persisting or beginning myasthenic syndromes. We conclude that Escobar syndrome is an inherited fetal myasthenic disease that also affects neuromuscular organogenesis. Because gamma expression is restricted to early development, patients have no myasthenic symptoms later in life. This is the major difference from mutations in the other AChR subunits and the striking parallel to the symptoms found in neonates with arthrogryposis when maternal AChR auto-antibodies crossed the placenta and caused the transient inactivation of the AChR pathway.

Amino Acid Sequence↗
PubMed1997

Arthrogrypotic joint contracture at the knee and the foot: correction with a circular frame.

The purpose of this study was to investigate the efficacy of an external fixator (Ilizarov apparatus) for the treatment of severe joint contractures in patients with arthrogryposis multiplex congenita. Thirteen knees and 16 feet were treated in 13 patients at an average age of 11.9 years. The knee flexion contractures were corrected from 38.9 degrees preoperatively to a mean of 6.5 degrees postoperatively and to 17.3 degrees at follow-up (34 months). In the foot deformities, the equinus position was corrected from 29.7 degrees to 7.8 degrees on average. This external fixator is an efficient tool for correction of deformities in arthrogryposis.

Adolescent↗
PubMed2000

Successful vaginal delivery in a woman with amyoplasia.

We report on the pregnancy management of a 22-year-old woman with amyoplasia, the commonest type of arthrogryposis multiplex congenita (AMC). Extrapolating from childhood and adult studies, the majority of cases are likely to be ambulatory and live independent lives as adults. Many females, therefore, would be expected to achieve a pregnancy. There have been several case reports on anaesthetic management for Caesarean section delivery in women with arthrogryposis, but no medical literature exists regarding the likelihood or management of vaginal delivery. This is the first reported case of conservative management of a woman with amyoplasia. A multi-disciplinary team was involved in her care. This involved careful assessment of her suitability for vaginal delivery, possible anaesthetic complications and potential difficulties in caring for an infant at home. Induction of labour at 37 weeks gestation resulted in the successful vaginal delivery of a liveborn healthy male.

Activities of Daily Living↗
PubMedDate not supplied

Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis.

The arthrogryposis, renal tubular dysfunction and cholestasis syndrome is rare. Novel identification of the mutation in VPS33B in this syndrome, which involves intracellular protein trafficking by regulation of vesicle-to-target sensory nerve action potential receptor (SNARE) family, might explain the consistent combination of membrane fusion defects. We can guess the defective lamellar body secretion mediated by the soluble N-ethylmaleimide-sensitive factor attachment protein receptor or SNARE protein pathway in the epidermis might result in the ichthyosiform phenotype. In the English-language literature, half of the reported instances of this syndrome are associated with ichthyosis. We report an infant with ichthyosis in association with arthrogryposis, renal tubular dysfunction, and cholestasis syndrome, and review the literature. Our findings suggest that the differential diagnosis of ichthyosis during infancy should include this syndrome.

Abnormalities, Multiple↗
PubMed2006

Artrogryposis multiplex congenita -- a rare fetal condition caused by maternal myasthenia gravis.

OBJECTIVES: To look at the occurrence of arthrogryposis multiplex congenita in newborn of mothers with myasthenia gravis (MG) and factors connected to this. MATERIAL AND METHODS: We retrospectively studied 176 births by 79 MG mothers, recorded in the Medical Birth Registry of Norway (MBRN). Four (2.2%) newborns (including one pair of twins) born with severe skeletal anomalies were identified. RESULTS: All four children died. Three had findings consistent with arthrogryposis multiplexa congenita (AMC), one had a fetal akinesia deformation sequence (FADS). The mother of the child with FADS had previously given birth to a child with neonatal MG. She was now in complete MG remission. The mother of the twins with AMC later gave birth to a child with neonatal MG. CONCLUSION: Siblings of an affected child -- either with neonatal MG or AMC -- have an increased risk to develop either neonatal MG or AMC. As this appears to be independent of the MG mother's clinical state, it is important to discuss previous pregnancy outcomes with all female MG patients.

Arthrogryposis↗
PubMed1978

Fletcher factor deficiency: report of a new family.

3 cases of Fletcher factor deficiency in a family not related to the 6 families already published (Hathaway et al 1965, Hattersley & Hayse 1970, Abildgaard & Harrison 1974) are studied. In the family described here, 3 of 4 siblings have a Fletcher factor level of less than 1% and the fourth has a level of 46%; the Fletcher factor level in the father is 48% and in the mother 38%. This suggests an autosomal recessive transmission. Clinically they do not present spontaneous bleedings and only one of the siblings required a unit of blood after an amygdalectomy. It is also of interest to emphasize that 3 of the siblings suffered from congenital multiple arthrogryposis and that 2 of them presented the arthrogryposis together with the Fletcher factor deficiency, a circumstance which could have been favored by the consanguinity of the parents. The fact that the family described here is white and of Mediterranean origin contradicts the idea that there exists a special predisposition among members of the black race for this disease.

Adolescent↗
PubMed1986

Multiple congenital malformations of the face, nervous system and musculoskeletal system of pigs.

Multiple congenital malformations occurred in 21 of 26 pigs (81%) in 3 litters from 2 piggeries. Two of 26 pigs (7%) were mummified while 3 of 26 (11%) were normal. Cheiloschisis was seen in all malformed pigs and was accompanied by various combinations of palatoschisis, arhinencephaly, hypoplasia of the spinal cord, arthrogryposis of the pelvic limbs, polydactyly, renal lesions and cauliflower ears. Histological examination suggested that arthrogryposis was due to neurogenic muscular atrophy. The teratogen was not identified.

Abnormalities, Multiple↗
PubMed1977

Congenital abnormalities in newborn lambs after infection of pregnant sheep with Akabane virus.

Akabane virus (a Bunyavirus) has been associated with epizootics of congenital deformities in cattle, sheep, and goats. Experimental studies using mouse-adapted virus inoculated intravenously into pregnant sheep gave an inapparent infection. Neutralizing antibodies were detected on day 5, and peaks in the titer were seen at days 10 and 48. Ewes infected at day 30 to 36 of pregnancy produced five (31% incidence) deformed lambs. Sera from four of these possessed neutralizing antibodies to Akabane virus before ingesting colostrum. Two lambs had arthrogryposis, hydranencephaly, kyphosis, scoliosis, and brachygnathia; one had micrencephaly; and the other two had porencephaly. The two lambs with arthrogryposis and hydranencephaly also had extensive lesions in other tissues. In the spinal cord there was a marked decrease in the number of ventral horn neurones and a depletion of myelin. Skeletal muscles showed marked atrophy. The medulla of the thymus possessed large Hassall's corpuscles and a reduced number of thymocytes in the cortex. It would appear that the pathogenic effects of Akabane virus are related to the gestational age (30 to 36 days) at which the fetus is infected. Akabane virus can now be included in the growing list of teratogenic viruses and provides an interesting system for studying such congenital diseases.

Animals↗