后螺旋凹
Posterior helical pits.
作者信息
Prescott Trine E, Hennekam Raoul C M
机构信息
Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Forskningsveien 2b, 0027 Oslo, Norway.
出版信息
Eur J Med Genet. 2007 Mar-Apr;50(2):159-61. doi: 10.1016/j.ejmg.2006.11.003. Epub 2006 Nov 30.
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.
耳后螺旋状凹痕是一个容易被忽视的发现。它们在普通人群中并不常见，尽管它们确实作为一种孤立的常染色体显性性状出现。我们仅在三种综合征中观察到耳后螺旋状凹痕这一特征：贝克威思-维德曼综合征、辛普森-戈拉比-贝梅尔综合征和鲁宾斯坦-泰比综合征。我们认为，耳后螺旋状凹痕一旦出现，就是一个很好的诊断线索。
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