BRACHMANN-DELANGE SYNDROME - DIAGNOSTIC DIFFICULTIES POSED BY THE MILD PHENOTYPE

We describe 4 patients with facial changes of Brachmann-de Lange syndr ome but without limb defects. Mental retardation ranged from moderate to severe and the degree of prenatal and postnatal growth deficiency w as variable. These patients exemplify the diagnostic difficulties and counseling dilemmas posed by the mild Brachmann-de Lange phenotype. Th e relationship of the mild phenotype to the full syndrome will not be understood until the pathogenetic or causal factor(s) are delineated. (C) 1993 Wiley-Liss, Inc.