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

R A Pfeiffer; J Correll

doi:10.1002/ajmg.1320470715

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

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

Authors

R A Pfeiffer¹, J Correll

Affiliation

¹ Institut für Humangenetik der Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.

PMID: 8291514
DOI: 10.1002/ajmg.1320470715

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.

Publication types

Case Reports

MeSH terms

Child, Preschool
De Lange Syndrome / diagnosis
De Lange Syndrome / pathology*
Ectromelia / pathology*
Femur / abnormalities
Humans
Limb Deformities, Congenital*
Male
Phenotype
Tibia / abnormalities
Ulna / abnormalities