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- W2030226066 abstract "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." @default.
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- W2030226066 date "1980-01-01" @default.
- W2030226066 modified "2023-10-16" @default.
- W2030226066 title "Multiple pterygium syndrome" @default.
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- W2030226066 doi "https://doi.org/10.1002/ajmg.1320070203" @default.
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