| 翻訳と辞書 |
| Baller-Gerold syndrome ： ウィキペディア英語版 |
Baller–Gerold syndrome
Baller–Gerold syndrome (BGS) is a rare autosomal recessive genetic disorder characterized by an abnormally shaped skull, caused by premature fusion of certain bones in the skull, short stature, and aplasia or hypoplasia of the radius bone in the forearm.〔Van Maldergem L. Baller-Gerold Syndrome. 2007 Aug 13 (2011 Jun 7 ). In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ (). Seattle (WA): University of Washington, Seattle; 1993-.Available from: http://www.ncbi.nlm.nih.gov/books/NBK1204/〕 This premature fusion occurs on the frontal plane and is called coronal craniosynostosis. This premature fusion alters the pattern of growth for the brain, and causes the abnormal-shaped skull (brachycephaly).
BGS is a rare condition that is estimated to have an incidence rate of less than one per million.〔
The cause of some BGS is a homozygous or compound heterozygous mutation in the ''RECQL4'' gene. Other genes may be involved but ''RECQL4'' is currently the only identified one.〔
==See also==
*Craniosynostosis
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
■ウィキペディアで「Baller–Gerold syndrome」の詳細全文を読む
スポンサード リンク
| 翻訳と辞書 : 翻訳のためのインターネットリソース |
Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.
|
|