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PubMed · 7468651

Multiple pterygium syndrome.

H Chen·C H Chang·R P Misra·H A Peters·N S Grijalva·J M Opitz
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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.

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Abnormalities, MultipleChildConsanguinityDiagnosis, DifferentialFemaleHumansInfant, NewbornMalePedigreePterygiumCase ReportsJournal ArticleResearch Support, U.S. Gov't, P.H.S.

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H Chen, C H Chang, R P Misra, H A Peters, N S Grijalva, J M Opitz. 1980. Multiple pterygium syndrome.. https://doi.org/10.1002/ajmg.1320070203

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