We describe 4 patients with facial changes of Brachmann-de Lange syndrome but without limb defects. Mental retardation ranged from moderate to severe and the degree of prenatal and postnatal growth deficiency was variable. These patients exemplify the diagnostic difficulties and counseling dilemmas posed by the mild Branchmann-de Lange phenotype. The relationship of the mild phenotype to the full syndrome will not be understood until the pathogenetic or causal factor(s) are delineated.

Address reprint requests to R. Curtis Rogers, M.D., Department of Clinical Genetics, Greenville Hospital System, 890 W. Faris Rd., Suite 460, Greenville, SC 29605.Fig. 2. Left foot showing atypical split and oligodactyly.

No abstract