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


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.

Cite this paper

@article{Schowalter1997FaciooculoacousticorenalS, title={Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.}, author={D. B. Schowalter and Roberta A. Pagon and Robert E. Kalina and Robert J. McDonald}, journal={American journal of medical genetics}, year={1997}, volume={69 1}, pages={45-9; discussion 44} }