伴有法洛四联症的纳杰尔颌面骨发育不全综合征。
The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.
作者信息
Thompson E, Cadbury R, Baraitser M
出版信息
J Med Genet. 1985 Oct;22(5):408-10. doi: 10.1136/jmg.22.5.408.
Abstract
A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.
摘要
描述了一名患有下颌面骨发育不全和拇指缺如的男婴，符合纳杰尔肢体颜面骨发育不全综合征。此外，该婴儿还患有法洛四联症。主要先天性心脏畸形在该综合征中很少见。
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