title: Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance.
abstract: We have evaluated a family in whom a mildly affected mother and her two severely affected sons have manifestations of the Brachmann-de Lange syndrome suggesting that some cases of this disorder are inherited in an autosomal dominant fashion. Documentation of the clinical phenotype in two generations of this family permits further delineation of the phenotypic spectrum of the disorder. The fact that most affected patients represent sporadic cases in otherwise normal families might represent the inability of severely affected individuals to reproduce.
mesh_terms: D000328:Adult; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male