ABSTRACT
Smith-Magenis syndrome (SMS) is a rare complex developmental disorder with multisystem involvement that is the result of a heterozygous interstitial deletion of the p11.2
band of chromosome 17. The deletion was first identified cytogenetically in the early 1980s in two males with multiple congenital anomalies (MCA) (1). This report was followed by a clinical series of 15 patients ranging in age from 3 months to 65 years that more fully delineated the clinical aspects of this MCA=mental retardation (MR) syndrome (2,3). Comprehensive clinical reviews published in the 1990s further expanded the phenotypic spectrum and variability of features that distinguish the physical, developmental, and neurobehavioral aspects of the syndrome (4-14).
