Otorhinolaringologic manifestation of Smith-Magenis syndrome

M. Di Cicco, R. Padoan, G. Felisati, D. Dilani, E. Moretti, S. Guerneri, A. Selicorni

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)147-150
Number of pages4
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume59
Issue number2
DOIs
Publication statusPublished - Jun 14 2001

Fingerprint

Smith-Magenis Syndrome
Self Mutilation
Language Development Disorders
Chromosomes, Human, Pair 1
Cytogenetic Analysis
Sinusitis
Gene Deletion
Otitis Media
Peripheral Nervous System Diseases
Deafness
Nose
Intellectual Disability
Signs and Symptoms
Sleep
Incidence

Keywords

  • Mental retardation
  • Multiple congenital anomaly
  • Smith-Magenis syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine
  • Surgery

Cite this

Otorhinolaringologic manifestation of Smith-Magenis syndrome. / Di Cicco, M.; Padoan, R.; Felisati, G.; Dilani, D.; Moretti, E.; Guerneri, S.; Selicorni, A.

In: International Journal of Pediatric Otorhinolaryngology, Vol. 59, No. 2, 14.06.2001, p. 147-150.

Research output: Contribution to journalArticle

Di Cicco, M, Padoan, R, Felisati, G, Dilani, D, Moretti, E, Guerneri, S & Selicorni, A 2001, 'Otorhinolaringologic manifestation of Smith-Magenis syndrome', International Journal of Pediatric Otorhinolaryngology, vol. 59, no. 2, pp. 147-150. https://doi.org/10.1016/S0165-5876(01)00475-X
Di Cicco, M. ; Padoan, R. ; Felisati, G. ; Dilani, D. ; Moretti, E. ; Guerneri, S. ; Selicorni, A. / Otorhinolaringologic manifestation of Smith-Magenis syndrome. In: International Journal of Pediatric Otorhinolaryngology. 2001 ; Vol. 59, No. 2. pp. 147-150.
@article{4afa1f7fafa149f78bb141fd29e70516,
title = "Otorhinolaringologic manifestation of Smith-Magenis syndrome",
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.",
keywords = "Mental retardation, Multiple congenital anomaly, Smith-Magenis syndrome",
author = "{Di Cicco}, M. and R. Padoan and G. Felisati and D. Dilani and E. Moretti and S. Guerneri and A. Selicorni",
year = "2001",
month = "6",
day = "14",
doi = "10.1016/S0165-5876(01)00475-X",
language = "English",
volume = "59",
pages = "147--150",
journal = "International Journal of Pediatric Otorhinolaryngology",
issn = "0165-5876",
publisher = "Elsevier Ireland Ltd",
number = "2",

}

TY - JOUR

T1 - Otorhinolaringologic manifestation of Smith-Magenis syndrome

AU - Di Cicco, M.

AU - Padoan, R.

AU - Felisati, G.

AU - Dilani, D.

AU - Moretti, E.

AU - Guerneri, S.

AU - Selicorni, A.

PY - 2001/6/14

Y1 - 2001/6/14

N2 - 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.

AB - 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.

KW - Mental retardation

KW - Multiple congenital anomaly

KW - Smith-Magenis syndrome

UR - http://www.scopus.com/inward/record.url?scp=0035859254&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035859254&partnerID=8YFLogxK

U2 - 10.1016/S0165-5876(01)00475-X

DO - 10.1016/S0165-5876(01)00475-X

M3 - Article

C2 - 11378192

AN - SCOPUS:0035859254

VL - 59

SP - 147

EP - 150

JO - International Journal of Pediatric Otorhinolaryngology

JF - International Journal of Pediatric Otorhinolaryngology

SN - 0165-5876

IS - 2

ER -