Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review

Am J Med Genet. 1997 Mar 3;69(1):45-9; discussion 44. doi: 10.1002/(sici)1096-8628(19970303)69:1<45::aid-ajmg9>3.0.co;2-s.

Abstract

We report on an 11-year-old boy with distinct facial anomalies, iris coloboma, iris hypoplasia, cataract, high myopia, retinal detachment, moderate sensorineural hearing loss, and proteinuria. He appears to have the facio-oculo-acoustico-renal (FOAR) syndrome, a rare familial disorder reported only 4 times previously. In contrast to the other patients, he has normal intellect.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abnormalities, Multiple / physiopathology*
  • Adolescent
  • Face / abnormalities
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Male
  • Proteinuria / physiopathology
  • Retinal Detachment / physiopathology
  • Syndrome