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.

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.

Otorhinolaringologic manifestation of Smith-Magenis syndrome

G. Felisati;
2001

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.
Mental retardation; Multiple congenital anomaly; Smith-Magenis syndrome
Settore MED/31 - Otorinolaringoiatria
Article (author)
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/188007
Citazioni
  • ???jsp.display-item.citation.pmc??? 6
  • Scopus 20
  • ???jsp.display-item.citation.isi??? 17
social impact