期刊
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
卷 59, 期 2, 页码 147-150出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/S0165-5876(01)00475-X
关键词
Smith-Magenis syndrome; multiple congenital anomaly; mental retardation
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.
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