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Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome.

Abstract
The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.
AuthorsR C Hennekam, R J Gorlin
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 65 Issue 2 Pg. 146-8 (Oct 16 1996) ISSN: 0148-7299 [Print] United States
PMID8911608 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Child
  • Deafness (complications, genetics)
  • Eye Abnormalities (complications, genetics)
  • Female
  • Humans
  • Hypopigmentation (complications, genetics)
  • Infant
  • Infant, Newborn
  • Learning Disabilities (complications, genetics)
  • Male
  • Muscle Hypertonia (complications, genetics)
  • Pregnancy
  • Syndrome

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