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  • Title: Goldberg-Shprintzen syndrome: report of a new family and review of the literature.
    Author: Fryer AE.
    Journal: Clin Dysmorphol; 1998 Apr; 7(2):97-101. PubMed ID: 9571278.
    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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