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Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):76-81. doi: 10.1002/bdra.20534.

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

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  • 1Massachusetts General Hospital, Boston, Massachusetts, USA. pober.barbara@mgh.harvard.edu

Abstract

Mutations in the gene LRP2 have recently been identified as the cause of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) syndrome. More than two dozen cases, the first reported more than 30 years ago by Holmes, have been published. Summarizing available information, we highlight the cardinal features of the disorder found in >or=90% of published cases. These features include: agenesis of the corpus callosum, developmental delay, enlarged anterior fontanelle, high myopia, hypertelorism, proteinuria, and sensorineural hearing loss. Congenital diaphragmatic hernia and omphalocele are reported in only half of the patients. There is no evidence for genotype-phenotype correlation, though the sample size is too small to preclude this with certainty. Although several conditions to consider in the differential diagnosis are highlighted, the diagnosis of DB/FOAR syndrome should not be difficult to establish as its constellation of findings is strikingly characteristic.

PMID:
19089858
PMCID:
PMC2882234
DOI:
10.1002/bdra.20534
[PubMed - indexed for MEDLINE]
Free PMC Article
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