Goldberg-Shprintzen syndrome: report of a new family and review of the literature

Abstract

In 1981,Goldberg and Shprintzen descriped siblings with short-segment Hirschspurg disease,cleft plate,microcephaly,mild mental retardation,short stature and distinctive facial appearance.There have ben several subsequent reports which broaden the phenotype.This paper describes a further family,reviews the literature and stresses the intra-familial variability.