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Eur J Hum Genet. 2011 May;19(5):513-9. doi: 10.1038/ejhg.2010.234. Epub 2011 Feb 2.

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

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1
Clinical Genetics Department, Univerity Hospitals NHS Foundation Trust, St Michael's Hospital, Bristol, UK.

Abstract

Bohring-Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously reported patients. This is the largest series reported to date, providing a unique opportunity to document the key clinical features and course through childhood. Investigations undertaken to try and elucidate the underlying pathogenesis of BOS using array comparative genomic hybridization and tandem mass spectrometry of cholesterol precursors did not show any pathogenic changes responsible.

PMID:
21368916
PMCID:
PMC3083618
DOI:
10.1038/ejhg.2010.234
[Indexed for MEDLINE]
Free PMC Article
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