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 journalArticlepeer-review

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

Keywords

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

ASJC Scopus subject areas

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

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