MULTIDISCIPLINARY CLINICAL-STUDY OF SMITH-MAGENIS SYNDROME (DELETION-17P11.2)

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 1 7 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, a nd molecular approach to SMS, detailed clinical studies including radi ographic, neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Signific ant findings include otolaryngologic abnormalities in 94%, eye abnorma lities in 85%, sleep abnormalities (especially reduced REM sleep) in 7 5%, hearing impairment in 68% (approximately 65% conductive and 35% se nsorineural), scoliosis in 65%, brain abnormalities (predominantly ven triculomegaly) in 52%, cardiac abnormalities in at least 37%, renal an omalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most pati ents falling in the moderate range of mental retardation at 40-54, alt hough several patients scored in the mild or borderline range. The fre quency of these many abnormalities in SMS suggests that patients shoul d be evaluated thoroughly for associated complications both at the tim e of diagnosis and at least annually thereafter. (C) 1996 Wiley-Liss, Inc.