title: Cornelia de Lange syndrome in a mother and daughter.
abstract: The Cornelia de Lange syndrome was first described in 1933. Since then, more than 250 cases have been described in the medical literature. It has generally been considered to be sporadic, but several authors have raised the possibility of genetic factors. We present a mother and child affected with Cornelia de Lange syndrome and raise the possibility of autosomal dominant inheritance.
mesh_terms: D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome