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

被引：41

作者：

Hastings, Rob ^{[1
]}

Cobben, Jan-Maarten ^{[2
]}

Gillessen-Kaesbach, Gabriele ^{[3
]}

Goodship, Judith ^{[4
]}

Hove, Hanne ^{[5
]}

Kjaergaard, Susanne ^{[5
]}

Kemp, Helena ^{[6
]}

Kingston, Helen ^{[7
]}

Lunt, Peter ^{[1
]}

Mansour, Sahar ^{[8
]}

McGowan, Ruth ^{[9
]}

Metcalfe, Kay ^{[7
]}

Murdoch-Davis, Catherine ^{[6
]}

Ray, Mary ^{[10
]}

Rio, Marlene ^{[11
]}

Smithson, Sarah ^{[1
]}

Tolmie, John ^{[9
]}

Turnpenny, Peter ^{[12
]}

van Bon, Bregje ^{[13
]}

Wieczorek, Dagmar ^{[14
]}

Newbury-Ecob, Ruth ^{[1
]}

机构：

[1] Univ Hosp NHS Fdn Trust, St Michaels Hosp, Dept Clin Genet, Bristol BS2 8EG, Avon, England

[2] Emma Kinderziekenhuis AMC, Dept Pediat Genet, Amsterdam, Netherlands

[3] Univ Lubeck, Inst Humangenet, Lubeck, Germany

[4] Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[5] Univ Copenhagen Hosp, Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

[6] Southmead Hosp, Dept Biochem, Bristol, Avon, England

[7] St Marys Hosp, Dept Med Genet, MAHSC, Manchester M13 0JH, Lancs, England

[8] St George Hosp, SW Thames Reg Genet Serv, London, England

[9] Yorkhill Hosp, Dept Med Genet, Glasgow, Lanark, Scotland

[10] Royal Hosp Sick Children, Dept Child Hlth, Glasgow G3 8SJ, Lanark, Scotland

[11] Univ Paris 05, Dept Genet, Paris, France

[12] Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter EX2 5DW, Devon, England

[13] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[14] Univ Klinikum Essen, Inst Humangenet, Essen, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 05期

关键词：

Bohring-Opitz; Oberklaid-Danks; cholesterol biosynthesis; array CGH; trigonocephaly; TRIGONOCEPHALY-C-SYNDROME; PATIENT;

D O I：

10.1038/ejhg.2010.234

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. European Journal of Human Genetics (2011) 19, 513-519; doi:10.1038/ejhg.2010.234; published online 2 February 2011

引用

页码：513 / 519

页数：7

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