Multiple pterygium syndrome.
We describe a sporadic case and four sibs from a consanguineous Nicaraguan family affected with the multiple pterygium syndrome. Clinical manifestations included normal intelligence; short stature; pterygia of neck, axillary, antecubital, popliteal, digital, and intercrural areas; multiple joint contractures with a crouched stance; a flat, sad, motionless facial appearance; and cleft palate. Males had small penis and scrotum and cryptorchidism; females had apparent aplasia of labia majora and small clitoris. Skeletal anomalies included fusion of cervical vertebrae, scoliosis, flexion contractures of fingers and "rocker-bottom" feet with vertical talus. This review documents genetic heterogeneity: Autosomal recessive inheritance in many cases, autosomal dominant determination in others, and sporadic occurrence.
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011625:Pterygium / Q000175:diagnosis / Q000235:genetics*