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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.
AuthorsA Yomo, T Taira, I Kondo
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 41 Issue 2 Pg. 188-91 (Nov 01 1991) ISSN: 0148-7299 [Print] United States
PMID1785632 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Blepharoptosis (genetics)
  • Child, Preschool
  • Dermatoglyphics
  • Dwarfism (genetics)
  • Female
  • Genes, Recessive
  • Hirschsprung Disease (genetics)
  • Humans
  • Infant, Newborn
  • Intellectual Disability (genetics)
  • Male
  • Muscle Hypotonia (genetics)
  • Syndrome

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