Adducted thumb syndrome. Report of a new case and a diagnostic approach.
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.
D000015:Abnormalities, Multiple / Q000150:complications; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009123:Muscle Hypotonia / Q000150:complications; D009135:Muscular Diseases / Q000151:congenital; D012131:Respiratory Insufficiency / Q000150:complications; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*