Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature

M Feingold; A E Lin

doi:10.1002/ajmg.1320470726

Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature

Am J Med Genet. 1993 Nov 15;47(7):1064-7. doi: 10.1002/ajmg.1320470726.

Authors

M Feingold¹, A E Lin

Affiliation

¹ Department of Genetics, Franciscan Children's Hospital, Brighton, MA 02135.

PMID: 8291524
DOI: 10.1002/ajmg.1320470726

Abstract

We report on a mother and daughter with the Brachmann-de Lange syndrome which supports the view that in some families this disorder is due to autosomal dominant inheritance. A review of the literature concerning autosomal and recessive inheritance of this syndrome is presented.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Adult
Child
De Lange Syndrome / genetics*
Face / abnormalities
Female
Genes, Dominant*
Growth Disorders / genetics
Hand Deformities, Congenital / genetics
Humans
Intellectual Disability / genetics