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Article

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

American journal of medical genetics - 15 Nov 1993

Pfeiffer R A, Correll J

Abstract excerpt

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...

Topics

Child, Preschool
De Lange Syndrome
Ectromelia
Femur
Humans
Limb Deformities, Congenital
Male
Phenotype
Tibia
Ulna

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8291514
DOI: 10.1002/ajmg.1320470715

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8291514-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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