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Review
. 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.

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

D B Schowalter  1 , R A Pagon, R E Kalina, R McDonald
Affiliations
Review

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

D B Schowalter et al. Am J Med Genet. .

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.

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