title: Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs.
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.
authors.affiliation: Department of Pediatrics, Okinawa Prefectural Nanbu Hospital, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Yomo
authors.forename: T
authors.initials: T
authors.lastname: Taira
authors.forename: I
authors.initials: I
authors.lastname: Kondo
mesh_terms: D001763:Blepharoptosis / Q000235:genetics*; D002675:Child, Preschool; D003878:Dermatoglyphics; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D013577:Syndrome