The Brachmann-de Lange syndrome in two siblings of normal parents.
In this report we describe two male siblings with typical Brachmann-de Lange syndrome. Both presented a severe form of this MCA syndrome, and died at the age of 3 months and 3 weeks, respectively. Family history was completely negative, parents were normal, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome