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...
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