[Amyoplasia congenita: a serious congenital abnormality with a relatively favorable prognosis]
SourceNederlands Tijdschrift voor Geneeskunde, 146, 40, (2002), pp. 1883-6
Article / Letter to editor
Display more detailsDisplay less details
Nederlands Tijdschrift voor Geneeskunde
SubjectDisturbances of cerebral development in the young child.; Neuromuscular and neurometabolic disorders; Elucidation of hereditary disorders and their molecular diagnosis; Cerebrale ontwikkelingsstoornissen bij het jonge kind; Neuromusculaire en neurometabole aandoeningen; Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
After an uneventful pregnancy a girl was born with serious joint contractures and several fractures of the long bones. The family history was negative for congenital abnormalities. Based on the distinct clinical presentation the diagnosis was 'amyoplasia', which is a partial aplasia of skeletal muscles. The cause of amyoplasia is unknown. As well as the partial muscle aplasia, which is symmetrical and mainly affects the extremities, joint contractures and deep dimples in the skin around the joints are present. Several frequently associated abnormalities have been reported, including abdominal hernias, midface capillary haemangiomas and hypoplastic external genitalia. The condition is always sporadic; there is a striking discordance within monozygotic twins and the offspring of patients is normal. In contrast with the severe neonatal presentation, the clinical prognosis is relatively good owing to intensive multidisciplinary treatment and the normal intelligence of the patients.
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.