Otorhinolaringologic manifestation of Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retard ation (MCA/MR) syndrome link to a contiguous-gene deletion syndrome, involv ing chromosome 1 7p 11.2,whose incidence is estimated to be 1:25 000 livebi rth. SMS is characterised by a specific physical, behavioural and developme ntal pattern. The main clinical features consist of a broad flat midface wi th brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse de ep voice and peripheral neuropathy. Behavioural abnormalities include hyper motility, self-mutilation and sleep disturbance. This report defines the ot orhinolaryngological aspects of a new case of SMS, confirmed by cytogenetic -molecular analysis, in a 9 year old girl affected by chronic otitis media, deafness and sinusitis, who presented with typical clinical signs and symp toms. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.