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

Authors :
Pfeiffer RA
Correll J
Source :
American journal of medical genetics [Am J Med Genet] 1993 Nov 15; Vol. 47 (7), pp. 1014-7.
Publication Year :
1993

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.

Details

Language :
English
ISSN :
0148-7299
Volume :
47
Issue :
7
Database :
MEDLINE
Journal :
American journal of medical genetics
Publication Type :
Academic Journal
Accession number :
8291514
Full Text :
https://doi.org/10.1002/ajmg.1320470715