Multiple pterygium syndrome
作者： Harold Chen , Chung-Ho Chang , Raghunath P. Misra , Henry A. Peters , Noel Sandino Grijalva
关键词: Anatomy 、 Cervical vertebrae 、 Short stature 、 Pterygium 、 Scrotum 、 Labia majora 、 Clitoris 、 Medicine 、 Multiple pterygium syndrome 、 Aplasia
摘要: We describe a sporadic case and four sibs from consanguineous Nicaraguan family affected with the multiple pterygium syndrome. Clinical manifestations included normal intelligence; short stature; pterygia of neck, axillary, antecubital, popliteal, digital, intercrural areas; joint contractures crouched stance; flat, sad, motionless facial appearance; cleft palate. Males had small penis scrotum cryptorchidism; females apparent aplasia labia majora clitoris. Skeletal anomalies fusion cervical vertebrae, scoliosis, flexion fingers “rocker-bottom” feet vertical talus. This review documents genetic heterogeneity: Autosomal recessive inheritance in many cases, autosomal dominant determination others, occurrence.
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