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患有巴勒-杰罗尔德综合征(颅缝早闭和桡骨发育不全)儿童的正常生长发育。

Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).

作者信息

Galea P, Tolmie J L

机构信息

Division of Medical Paediatrics, Royal Hospital for Sick Children, Yorkhill, Glasgow.

出版信息

J Med Genet. 1990 Dec;27(12):784-7. doi: 10.1136/jmg.27.12.784.

Abstract

The cardinal features of the Baller-Gerold syndrome (MIM *21860) are craniosynostosis and radial aplasia. Only 12 cases have been published and these are roughly divisible into two groups: cases without any additional abnormalities and cases with a broad range of additional features. We describe a boy with craniosynostosis and radial aplasia alone and highlight genetic counselling difficulties presented by a sporadic case of this rare syndrome.

摘要

巴莱-杰罗尔德综合征(MIM *21860)的主要特征是颅缝早闭和桡骨发育不全。仅发表了12例病例,这些病例大致可分为两组:无任何其他异常的病例和具有广泛其他特征的病例。我们描述了一名仅患有颅缝早闭和桡骨发育不全的男孩,并强调了这种罕见综合征散发病例所带来的遗传咨询困难。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de3d/1017284/6f98919d6d19/jmedgene00050-0056-a.jpg

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