Journal
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
Volume 85, Issue 1, Pages 76-81Publisher
WILEY
DOI: 10.1002/bdra.20534
Keywords
Donnai-Barrow (DB) syndrome; facio-oculo-acoustico-renal (FOAR); syndrome; LRP2; megalin; congenital diaphragmatic hernia; agenesis of corpus callosum
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Funding
- American College of Surgeons' Resident Research Award
- [R01 HD55150-01]
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R01HD055150] Funding Source: NIH RePORTER
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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 >= 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. Birth Defects Research (Part A) 85:76-81, 2009. (C) 2008 Wiley-Liss, Inc.
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