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Review
. 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

Rob Hastings  1 , Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjaergaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth McGowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter Turnpenny, Bregje van Bon, Dagmar Wieczorek, Ruth Newbury-Ecob
Affiliations
Review

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

Rob Hastings et al. Eur J Hum Genet. 2011 May.

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.

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Figures

Figure 1
Figure 1
Facial appearance of features of patients with BOS.
Figure 2
Figure 2
Pictures showing the typical posture of patients with BOS.
See this image and copyright information in PMC

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