多发性骨缝融合型软骨发育不全症。
Achondroplasia with synostosis of multiple sutures.
机构信息
Department of Neurosurgery, Agia Sofia Children's Hospital, Athens, Greece.
出版信息
Am J Med Genet A. 2011 Aug;155A(8):1969-71. doi: 10.1002/ajmg.a.33744. Epub 2011 Jul 7.
PMID:21739570
Abstract
We report for the second time on a case of achondroplasia with synostosis of multiple sutures. The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. Imaging studies disclosed complex craniosynostosis and neurosurgical intervention was carried out, particularly for posterior plagiocephaly.
摘要
我们第二次报告一例多发性骨缝融合的软骨发育不全症病例。鉴定出最常见的软骨发育不全症突变（FGFR3 Gly380Arg，导致 1138G>A）。影像学研究显示复杂的颅缝早闭，并进行了神经外科干预，特别是针对后斜头畸形。
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