布腊克曼-德朗热综合征（BDLS）中的半肢畸形：一名上下肢严重发育不全的患者。

Hemimelia in Brachmann-de Lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs.

作者信息

Pfeiffer R A, Correll J

机构信息

Institut für Humangenetik der Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.

出版信息

Am J Med Genet. 1993 Nov 15;47(7):1014-7. doi: 10.1002/ajmg.1320470715.

DOI:10.1002/ajmg.1320470715

PMID:8291514

Abstract

We report on a male infant with Brachmann-de Lange syndrome (BDLS) and ulnar hemimelia and monodactyly but also absence of both tibiae, the right distal femur being bifurcated. One similar observation was published earlier. The question is raised whether these malformations are coincidental or a rare component of BDLS.

摘要

我们报告了一名患有 Brachmann-de Lange 综合征（BDLS）、尺骨半侧发育不全和单指畸形的男婴，同时还存在双侧胫骨缺如，右侧股骨远端分叉。此前曾发表过一项类似的观察结果。问题在于这些畸形是偶然发生的，还是 BDLS 的一种罕见组成部分。