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Article

Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype.

American journal of medical genetics - 15 Nov 1993

Saul R A, Rogers R C, Phelan M C, Stevenson R E

Abstract excerpt

We describe 4 patients with facial changes of Brachmann-de Lange syndrome but without limb defects. Mental retardation ranged from moderate to severe and the degree of prenatal and postnatal growth deficiency was variable. These patients exemplify the diagnostic difficulties and counseling dilemmas posed by the mild Branchmann-de Lange phenotype. The relationship of the mild phenotype to the full syndrome will...

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Identifiers

PMID: 8291544
DOI: 10.1002/ajmg.1320470712

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