Index finger abnormalities in Simpson-Golabi-Behmel syndrome.
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.
Day
Ruth
R
Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital (Alder Hey), Eaton Road, Liverpool, L12 2AP, UK.
Fryer
Alan
A
D002675:Child, Preschool; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D040181:Genetic Diseases, X-Linked; D006801:Humans; D008297:Male