2. Academic Validation
  3. Goldberg-Shprintzen syndrome: report of a new family and review of the literature

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

  • Clin Dysmorphol. 1998 Apr;7(2):97-101. doi: 10.1097/00019605-199804000-00003.
A E Fryer 1
Affiliations

Affiliation

  • 1 Department of Clinical Genetics, Royal Liverpool Childrens Hospital (Alder Hey), UK.
PMID: 9571278 DOI: 10.1097/00019605-199804000-00003
Abstract

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.

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