Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome link to a contiguous-gene deletion syndrome, involving chromosome 1 7p 11.2,whose incidence is estimated to be 1:25 000 livebirth. SMS is characterised by a specific physical, behavioural and developmental pattern. The main clinical features consist of a broad flat midface with brachycefaly, broad nasal bridge, brachydactily, speech delay, hoarse deep voice and peripheral neuropathy. Behavioural abnormalities include hypermotility, self-mutilation and sleep disturbance. This report defines the otorhinolaryngological 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 symptoms. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.
|Titolo:||Otorhinolaringologic manifestation of Smith-Magenis syndrome|
|Parole Chiave:||Mental retardation; Multiple congenital anomaly; Smith-Magenis syndrome|
|Settore Scientifico Disciplinare:||Settore MED/31 - Otorinolaringoiatria|
|Data di pubblicazione:||2001|
|Digital Object Identifier (DOI):||10.1016/S0165-5876(01)00475-X|
|Appare nelle tipologie:||01 - Articolo su periodico|