Literature DB >> 9066882

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

D B Schowalter1, R A Pagon, R E Kalina, R McDonald.   

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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Mesh：

Year:  1997        PMID： 9066882     DOI： 10.1002/(sici)1096-8628(19970303)69:1<45::aid-ajmg9>3.0.co;2-s

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

Authors:  K Devriendt; L Standaert; C Van Hole; H Devlieger; J P Fryns
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

2.  Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Authors:  Molka Kammoun; Paul Brady; Luc De Catte; Jan Deprest; Koenraad Devriendt; Joris Robert Vermeesch
Journal:  Eur J Hum Genet       Date:  2018-01-22       Impact factor: 4.246

Review 3.  A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.

Authors:  Barbara R Pober; Mauro Longoni; Kristin M Noonan
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-01

Review 4.  Genetic aspects of human congenital diaphragmatic hernia.

Authors:  B R Pober
Journal:  Clin Genet       Date:  2008-05-28       Impact factor: 4.438
  4 in total

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