On the variable expression of the Brachmann-de Lange syndrome.

doi:10.1111/j.1399-0004.1992.tb03628.x

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Article

On the variable expression of the Brachmann-de Lange syndrome.

Clinical genetics - 1 Jan 1992

de Die-Smulders C, Theunissen P, Schrander-Stumpel C, Frijns J P

Abstract excerpt

A mother of normal intelligence and her moderately mentally retarded son, both with the typical facial features of the Brachmann-de Lange syndrome, are reported. We discuss the variable expression of the Brachmann-de Lange syndrome by comparing the autosomal dominant cases with the sporadic or presumed autosomal recessive cases. The autosomal dominant cases show milder symptoms in general. In our opinion, a de...

Topics

Adult
De Lange Syndrome
Face
Female
Genes, Dominant
Genes, Recessive
Humans
Infant, Newborn
Intellectual Disability
Intelligence
Male
Mosaicism

Phenotype

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