Chodirker B N, Chudley A E
Department of Child Health, University of Manitoba, Winnipeg, Canada.
Am J Med Genet. 1994 Sep 1;52(3):331-3. doi: 10.1002/ajmg.1320520315.
We report on a father and son with mild Brachmann-de Lange syndrome. Previous reports have documented apparent autosomal dominant transmission; however, only one example of male-to-male transmission of possible Brachmann-de Lange syndrome has been reported. This case provides further evidence of the existence of an autosomal dominant form of Brachmann-de Lange syndrome.