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Index finger abnormalities in Simpson-Golabi-Behmel syndrome
1Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital (Alder Hey), Eaton Road, Liverpool, L12 2AP, UK.
Clinical Dysmorphology
|December 17, 2004
Abstract:
Simpson-Golabi-Behmel syndrome (SGBS) is an X linked recessive overgrowth disorder in which digital abnormalities are a well-described aspect of the phenotype. We report a case with marked index finger hypoplasia and a congenital abnormality of the proximal phalanx and review the literature detailing index finger abnormalities in this condition.
