New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two Brazilian patients

Am J Med Genet. 1997 Jun 13;70(3):247-9. doi: 10.1002/(sici)1096-8628(19970613)70:3<247::aid-ajmg6>3.0.co;2-t.

Abstract

We report on two sisters with cataracts and progressive sensorineural hearing loss, starting in infancy. They were born to consanguineous parents, and there were no similar cases in the family. To our knowledge this is the first report on this autosomal recessive condition. Clinical and genetic aspects are discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Brazil
  • Cataract / genetics
  • Cataract / pathology*
  • Child
  • Consanguinity
  • Female
  • Genes, Recessive*
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / pathology*
  • Humans
  • Middle Aged
  • Syndrome