Yomo A, Taira T, Kondo I
Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. [Case Reports, Journal Article, Review]
Am J Med Genet 1991 Nov 1; 41(2):188-91.
We describe a brother and sister with Hirschsprung disease, hypotonia, and ptosis. Their condition resembles that in 2 sibs reported by Goldberg and Shprintzen. We conclude that the clinical characteristics in 8 reported cases with similar clinical manifestations represent a distinct autosomal recessive syndrome, Goldberg-Shprintzen syndrome.
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