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

doi:10.1002/ajmg.1320470712

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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 dilemm...

Topics

Adult
Child
De Lange Syndrome
Face
Female
Growth Disorders
Humans
Intellectual Disability
Limb Deformities, Congenital
Male
Phenotype

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