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Am J Med Genet. 1991 Nov 1;41(2):188-91.

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.

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1
Department of Pediatrics, Okinawa Prefectural Nanbu Hospital, Japan.

Abstract

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.

PMID:
1785632
DOI:
10.1002/ajmg.1320410211
[Indexed for MEDLINE]
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