Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth

Jeffrey W. Innis, Paul A. Sieving, Pamella McMillan, Robert A. Weatherly

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

We report on a family with early-onset sensorineural hearing loss, abnormal retinal pigment epithelium granularity, accumulation of creamy- white lesions at the level of the retinal pigment epithelium particularly superior to the arcade, and selective discoloration (brown) of molars or canine deciduous teeth that follows an apparent autosomal recessive inheritance pattern. This appears to be a new syndrome that can be distinguished from the known otodental, oculo-acoustic and flecked retina syndromes by the occurrence of distinct dental and ocular abnormalities.

Original languageEnglish (US)
Pages (from-to)13-17
Number of pages5
JournalAmerican journal of medical genetics
Volume75
Issue number1
DOIs
StatePublished - Jan 6 1998
Externally publishedYes

Keywords

  • Autosomal recessive
  • Delay in tooth eruption
  • Discolored enamel
  • Retinal pigment epithelium
  • Sensorineural hearing loss

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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