米勒综合征性颌面骨发育不全综合征的表型变异性。另外两例患者报告。

Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients.

作者信息

Chrzanowska K H, Fryns J P, Krajewska-Walasek M, Wisniewski L, Van den Berghe H

机构信息

Department of Human Genetics, Memorial Hospital, Warsaw, Poland.

出版信息

Clin Genet. 1989 Feb;35(2):157-60. doi: 10.1111/j.1399-0004.1989.tb02922.x.

DOI:10.1111/j.1399-0004.1989.tb02922.x

PMID:2721025

Abstract

In this report we present two unrelated patients with the postaxial dysostosis syndrome (Miller syndrome) and document further the phenotypic variability of the craniofacial stigmata and of the postaxial (and preaxial) upper and lower limb reduction anomalies.

摘要

在本报告中，我们展示了两名患有轴后发育不全综合征（米勒综合征）的非亲缘患者，并进一步记录了颅面部特征以及轴后（和轴前）上肢和下肢发育不全异常的表型变异性。