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Case Reports
. 1981 Dec;18(6):451-5.
doi: 10.1136/jmg.18.6.451.

Multiple pterygium syndrome

V B Penchaszadeh, B Salszberg
Case Reports

Multiple pterygium syndrome

V B Penchaszadeh et al. J Med Genet. 1981 Dec.

Abstract

The multiple pterygium syndrome is a rare autosomal recessive condition characterised by arthrogryposis multiplex congenita, pterygia of the neck, fingers, and antecubital, popliteal, and intercrural areas, growth retardation, and facial, vertebral, and genital anomalies. We present two unrelated patients of 17 and 6 years of age, respectively, affected with this condition. We describe the natural history of their disorder since birth and review the spectrum of phenotypic variation of the multiple pterygium syndrome in 25 published cases.

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