Data di Pubblicazione:
2001
Citazione:
Otorhinolaringologic manifestation of Smith-Magenis syndrome / M. Di Cicco, R. Padoan, G. Felisati, D. Dilani, E. Moretti, S. Guerneri, A. Selicorni. - In: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. - ISSN 0165-5876. - 59:2(2001), pp. 147-150.
Abstract:
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Mental retardation; Multiple congenital anomaly; Smith-Magenis syndrome
Elenco autori:
M. Di Cicco, R. Padoan, G. Felisati, D. Dilani, E. Moretti, S. Guerneri, A. Selicorni
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