Suppr超能文献

额鼻发育不全合并法洛四联症

Frontonasal dysplasia associated with tetralogy of Fallot.

作者信息

De Moor M M, Baruch R, Human D G

出版信息

J Med Genet. 1987 Feb;24(2):107-9. doi: 10.1136/jmg.24.2.107.

Abstract

Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed.

摘要

报告了3例患有额鼻发育异常并伴有法洛四联症的儿童。所有病例均有真性眶距增宽和鼻正中沟,鼻尖缺如。无智力缺陷。面部异常是面部正常发育的散发性、非遗传性干扰。这是额鼻发育异常与心脏缺陷相关的首次报告。提出了该综合征的多因素遗传方式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e27e/1049899/7dda7ec05a88/jmedgene00076-0043-a.jpg

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验