Otorhinolaringologic manifestation of Smith-Magenis syndrome.
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.
Di Cicco
M
M
Otorhinolaryngologic Department, AO ICP-University of Milan, Milan San Felice 20090, Italy. maurimdc@yahoo.com
Padoan
R
R
Felisati
G
G
Dilani
D
D
Moretti
E
E
Guerneri
S
S
Selicorni
A
A
D000015:Abnormalities, Multiple; D002648:Child; D002653:Child Behavior Disorders / Q000150:complications; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002908:Chronic Disease; D003638:Deafness / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008443:Maxillary Sinus / Q000000981:diagnostic imaging; D010035:Otitis Media, Suppurative / Q000150:complications / Q000235:genetics*; D012852:Sinusitis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed