International Journal of Pediatric Otorhinolaryngology
Volume 59, Issue 2 , Pages 147-150, 14 June 2001

Otorhinolaringologic manifestation of Smith–Magenis syndrome

  • M Di Cicco

      Affiliations

    • Otorhinolaryngologic Department, AO ICP-University of Milan, 8° Strada n° 27, Milan San Felice 20090, Italy
    • Corresponding Author InformationCorresponding author
  • ,
  • R Padoan

      Affiliations

    • Cystic Firbosis Center, AO ICP, Milan, Italy
  • ,
  • G Felisati

      Affiliations

    • Otorhinolaryngologic Department, AO ICP-University of Milan, 8° Strada n° 27, Milan San Felice 20090, Italy
  • ,
  • D Dilani

      Affiliations

    • IRCCS E.Medea, Bosisio Parini, Lecco, Italy
  • ,
  • E Moretti

      Affiliations

    • Cystic Firbosis Center, AO ICP, Milan, Italy
  • ,
  • S Guerneri

      Affiliations

    • Pediatric Department, AO ICP-University of Milan, Milan, Italy
  • ,
  • A Selicorni

      Affiliations

    • IRCCS E.Medea, Bosisio Parini, Lecco, Italy

Received 8 December 2000; received in revised form 22 March 2001; accepted 22 March 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.

Keywords:  Smith–Magenis syndrome, Multiple congenital anomaly, mental retardation

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PII: S0165-5876(01)00475-X

International Journal of Pediatric Otorhinolaryngology
Volume 59, Issue 2 , Pages 147-150, 14 June 2001