We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
- Authors
Hastings, Rob; Cobben, Jan-Maarten; Gillessen-Kaesbach, Gabriele; Goodship, Judith; Hove, Hanne; Kjaergaard, Susanne; Kemp, Helena; Kingston, Helen; Lunt, Peter; Mansour, Sahar; McGowan, Ruth; Metcalfe, Kay; Murdoch-Davis, Catherine; Ray, Mary; Rio, Marlène; Smithson, Sarah; Tolmie, John; Turnpenny, Peter; van Bon, Bregje; Wieczorek, Dagmar
- 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.
- Subjects
GENETIC disorders; ETIOLOGY of diseases; GENOMICS; GENETICS; CHOLESTEROL
- Publication
European Journal of Human Genetics, 2011, Vol 19, Issue 5, p513
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2010.234