Schowalter D B, Pagon R A, Kalina R E, McDonald R
Department of Medicine, University of Washington School of Medicine, Seattle, USA.
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.
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.
