[V型尖头并指（趾）畸形（普费弗综合征）。关于同一家族中的3例病例]
[Type V acrocephalosyndactylia (Pfeiffer's syndrome). Apropos of 3 cases in the same family].
作者信息
Manouvrier-Hanu S, Herbaux B, Pellerin P, Douchet P, Bouchez-Bonniere M C, Dubos J P, Farriaux J P
机构信息
Service de Génétique, Hôpital Huriez, C.H.U., Lille.
出版信息
Arch Fr Pediatr. 1989 Jun-Jul;46(6):433-7.
PMID:2783004
Abstract
We report 3 cases of acrocephalosyndactyly V (Pfeiffer syndrome) in the same family. This syndrome is characterized by coronal craniosynostosis with facial dysmorphism and specific malformations of the extremities (wide stubly adducted thumbs). The pattern of inheritance in autosomal dominant. The place of this syndrome is discussed in the group of disorders associated with acrocephalopolysyndactyly.
摘要
我们报告了同一家庭中的3例尖头并指畸形V型（法伊弗综合征）病例。该综合征的特征为冠状缝早闭，伴有面部畸形和四肢特定畸形（宽阔、短粗、内收的拇指）。其遗传方式为常染色体显性遗传。本文还在与尖头多指（趾）畸形相关的疾病组中讨论了该综合征的位置。
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