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

Am J Med Genet. 1996 Oct 16;65(2):146-8. doi: 10.1002/(SICI)1096-8628(19961016)65:2<146::AID-AJMG13>3.0.CO;2-Q.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Deafness / complications*
  • Deafness / genetics
  • Eye Abnormalities / complications
  • Eye Abnormalities / genetics*
  • Female
  • Humans
  • Hypopigmentation / complications
  • Hypopigmentation / genetics*
  • Infant
  • Infant, Newborn
  • Learning Disabilities / complications
  • Learning Disabilities / genetics
  • Male
  • Muscle Hypertonia / complications
  • Muscle Hypertonia / genetics
  • Pregnancy
  • Syndrome