ISSN:
1432-1076
Keywords:
Adducted thumb syndrome
;
Congenital myopathy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We report on a female newborn baby with a “myopathic” stiff face, open mouth, high-arched palate, microgenia, generalized muscular hypotonia, limited extension of elbows, wrists and knees, flexed adducted thumbs, velopharyngeal insufficiency, and hypertrichosis. Death occurred at 3 months due to respiratory insufficiency. Muscular biopsy revealed myopathic abnormalities.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00496805
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