关于兄弟姐妹中发生中肢短小并指（趾）畸形、多指（趾）畸形和丹迪-沃克综合征的一份新报告。

A new report of mesomelic camptomelia, polydactyly and Dandy-Walker complex in siblings.

作者信息

Planas S, Peiró R, Rubio R, Villanueva R, Serés A, Carreras R

机构信息

Unit of Echography and Prenatal Diagnosis, Department of Obstetrics and Gynaecology, Hospital del Mar, Universitat Autònoma de Barcelona, Barcelona, Spain.

出版信息

Prenat Diagn. 2003 May;23(5):372-4. doi: 10.1002/pd.601.

DOI:10.1002/pd.601

PMID:12749032

Abstract

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy-Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern.

摘要

报告了两名患有多种畸形的男性兄弟姐妹。在两个胎儿中检测到的异常为中肢短小弯曲、轴后多指畸形和丹迪-沃克综合征。文献中此前仅有一份类似报告。这种组合可能代表一种特定的畸形模式或一种新的综合征，存在不同的变体。父母的近亲关系以及后续妊娠中的复发提示为常染色体隐性遗传模式。