伴有相关特征的口面指（OFD）综合征：一种新综合征还是基因异质性与变异性？
Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability?
作者信息
Morán-Barroso V, Valdés Flores M, García-Cavazos R, Kofman-Alfaro S, Saavedra-Ontiveros D
机构信息
Servicio de Genética, Hospital General de México, SSa. Facultad de Medicina, UNAM, Mexico.
出版信息
Clin Dysmorphol. 1998 Jan;7(1):55-7.
PMID:9546832
Abstract
We report a male patient with clinical characteristics compatible with an OFD syndrome and previously unassociated findings such as myelomeningocele, stenosis of aqueduct of Sylvius and heart anomalies, that we feel that may represent a new type of OFD syndrome (XII).
摘要
我们报告了一名男性患者，其临床特征与口-面-指（趾）综合征相符，并且有诸如脊髓脊膜膨出、中脑导水管狭窄和心脏异常等先前未关联的发现，我们认为这可能代表一种新型的口-面-指（趾）综合征（XII型）。
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