Goldberg-Shprintzen syndrome: report of a new family and review of the literature.
In 1981, Goldberg and Shprintzen described siblings with short-segment Hirschsprung disease, cleft palate, microcephaly, mild mental retardation, short stature and distinctive facial appearance. There have been several subsequent reports which broaden the phenotype. This paper describes a further family, reviews the literature and stresses the intra-familial variability.
Fryer
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AE
Department of Clinical Genetics, Royal Liverpool Childrens Hospital (Alder Hey), UK.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome