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

Ruth A Newbury-Ecob (1) , Jan Maarten Cobben (1) , Gabriele Gillessen-Kaesbach (1) , Judith Goodship (1) , Hanne Hove (1) , Susanne Kjaergaard (1) , Helena Kemp (1) , Helen Kingston (1) , Peter Lunt (1) , Sahar Mansour (1) , Ruth Mcgowan (1) , Kay Metcalfe (1) , Catherine Murdoch-Davis Murdoch-Davis (1) , Mary Ray (1) , Marlène Rio (1) , Sarah F Smithson (1) , John Tolmie (1) , Peter D Turnpenny (1) , Bregje Wm van Bon (1) , Dagmar Wieczorek (1) , Rob W T Hastings (1)

1 Department of Clinical Genetics

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 demonstrate any pathogenic changes responsible.

Mots clés: Bohring-Opitz; Oberklaid-Danks; trigonocephaly

Ruth A Newbury-Ecob, Jan Maarten Cobben, Gabriele Gillessen-Kaesbach, Judith Goodship, Hanne Hove, et al.. Bohring-Opitz (Oberklaid-Danks) syndrome: Clinical study, review of the literature and discussion of possible pathogenesis. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.234⟩. ⟨hal-00611255⟩