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耳头并指(趾)畸形:一种新的颅缝早闭综合征还是赛-乔综合征的一种变异型?

Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?

作者信息

Legius E, Fryns J P, Van den Berghe H

机构信息

Centre for Human Genetics, University of Leuven, Belgium.

出版信息

J Med Genet. 1989 Aug;26(8):522-4. doi: 10.1136/jmg.26.8.522.

Abstract

A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild craniosynostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. In addition, in the present family, the mother had fusion of two cervical vertebrae and a partial duplication of the first metatarsal. The child had a bilateral cleft lip and palate. The question is raised whether these patients represent a new syndrome or a variant of the Saethre-Chotzen syndrome.

摘要

据报道,一对母子均出现双侧第三、四、五趾并指畸形、冠状缝轻度颅缝早闭以及小耳廓。Kurczynsky和Casperson最近在一位母亲及其女儿身上将相同的畸形组合描述为一种新综合征。此外,在这个家庭中,母亲有两节颈椎融合以及第一跖骨部分重复。孩子患有双侧唇腭裂。问题是这些患者是否代表一种新综合征或赛特勒-乔岑综合征的一种变异型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/833e/1015676/dc1332f4ed8b/jmedgene00058-0042-a.jpg

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