Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. American journal of medical genetics [Am J Med Genet] Journal article

Title	Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.
Author(s)	Yomo A, Taira T, Kondo I
Institution	Department of Pediatrics, Okinawa Prefectural Nanbu Hospital, Japan.
Source	Am J Med Genet 1991 Nov 1; 41(2):188-91.
MeSH	Blepharoptosis Child, Preschool Dermatoglyphics Dwarfism Female Genes, Recessive Hirschsprung Disease Humans Infant, Newborn Male Mental Retardation Muscle Hypotonia Syndrome
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.
Language	eng
Pub Type(s)	Case Reports Journal Article Review
PubMed ID	1785632

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