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

✍ Scribed by Schowalter, David B.; Pagon, Roberta A.; Kalina, Robert E.; McDonald, Ruth

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 246 KB
Volume: 69
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970303)69:1<45::aid-ajmg9>3.0.co;2-s

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✦ Synopsis

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. Am.

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