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.
Schowalter
D B
DB
Department of Medicine, University of Washington School of Medicine, Seattle, USA.
Pagon
R A
RA
Kalina
R E
RE
McDonald
R
R
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D000293:Adolescent; D005145:Face / Q000002:abnormalities; D006319:Hearing Loss, Sensorineural / Q000503:physiopathology; D006801:Humans; D008297:Male; D011507:Proteinuria / Q000503:physiopathology; D012163:Retinal Detachment / Q000503:physiopathology; D013577:Syndrome