HEMIMELIA IN BRACHMANN-DELANGE SYNDROME (BDLS) - A PATIENT WITH SEVERE DEFICIENCY OF THE UPPER AND LOWER-LIMBS

被引：13

作者：

PFEIFFER, RA ^{[1
]}

CORRELL, J ^{[1
]}

机构：

[1] ORTHOPAD KINDERKLIN ASCHAU CHIEMGAU, ERLANGEN, GERMANY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 07期

关键词：

BRACHMANN-DELANGE SYNDROME; ABSENCE OF THE RADIUS; MONODACTYLY; ABSENCE OF THE TIBIA; BIFURCATION OF THE FEMUR;

D O I：

10.1002/ajmg.1320470715

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 1993 Wiley-Liss, Inc.

引用

页码：1014 / 1017

页数：4

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