Posterior helical pits

被引：6

作者：

Prescott, Trine E.

Hennekam, Raoul C. M.

机构：

[1] Natl Hosp Norway, Radiumhosp, Med Ctr, Dept Med Genet, N-0027 Oslo, Norway

[2] UCL, Great Ormond St Hosp Children, Inst Child Hlth, Clin & Mol Genet Unit, London, England

[3] Univ Amsterdam, Acad Med Ctr, Dept Paediat, NL-1105 AZ Amsterdam, Netherlands

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2007年 / 50卷 / 02期

关键词：

posterior helical pits; ear pits; auricular pits; posterior ear pits;

D O I：

10.1016/j.ejmg.2006.11.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Posterior helical pits are an easily overlooked finding. They are uncommon in the general population although they do occur as an isolated autosomal dominant trait. We have observed posterior helical pits as a feature in three syndromes only: Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome and Rubinstein-Taybi syndrome. We suggest that posterior helical pits, when present, are an excellent diagnostic handle. (c) 2007 Elsevier Masson SAS. All rights reserved.

引用

页码：159 / 161

页数：3

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