Se la conosci la riconosci
Sindrome di Smith-Magenis
Paola Cianci1, Roberta Onesimo2, Giuseppe Zampino2, Angelo Selicorni3
1Clinica Pediatrica, Ospedale “F. Del Ponte”, Università Insubria Varese-Como, Varese
2UOSA Malattia Rare e Difetti Congeniti, Area Pediatrica, Polo Scienze Salute Donna e Bambino, Fondazione Policlinico Universitario “A. Gemelli”, Università “Cattolica”, Roma
3UOC di Pediatria, Presidio San Fermo, ASST Lariana, Como
Maggio 2018 - pagg. 319 -321
Suggerite dall'AI
Classificazione MeSH
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Bibliografia
• Alaimo JT, Barton LV, Mullegama SV, Wills RD, Foster RH, Elsea SH.
Individuals with Smith-Magenis syndrome display profound neurodevelopmental
behavioral deficiencies and exhibit food-related behaviors
equivalent to Prader-Willi syndrome. Res Dev Disabil 2015;47:27-38.
• Falco M, Amabile S, Acquaviva F. RAI1gene mutations: mechanisms
of Smith-Magenis syndrome. Appl Clin Genet. 2017;10:85-94.
• Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH. RAI1 variations in
Smith-Magenis syndrome patients without 17p11.2 deletions. J Med
Genet 2005;42(11):820-8.
• Girirajan S, Vlangos CN, Szomju BB, et al. Genotype-phenotype correlation
in Smith-Magenis syndrome: evidence that multiple genes in
17p11.2 contribute to the clinical spectrum. Genet Med 2006;8(7):
417-27.
• Gropman AL, Duncan WC, Smith AC. Neurologic and developmental
features of the Smith-Magenis syndrome (del 17p11.2). Pediatr
Neurol 2006;34(5):337-50.
• Martin SC, Wolters PL, Smith AC. Adaptive and maladaptive behavior
in children with Smith-Magenis Syndrome. J Autism Dev Disord
2006;36(4):541-52.
• Poisson A, Nicolas A, Cochat P, et al. Behavioral disturbance and
treatment strategies in Smith-Magenis syndrome. Orphanet J Rare Dis
2015 Sep 4;10:111.
• Shelley BP, Robertson MM. The neuropsychiatry and multisystem features
of the Smith-Magenis syndrome: a review. J Neuropsychiatry Clin
Neurosci. 2005;17:91-7.
• Smith A, Boyd K, Elsea S, et al. Smith-Magenis Syndrome. In: Pagon
RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews.
• Smith AC, Dykens E, Greenberg F. Behavioral phenotype of Smith-
Magenis syndrome (del 17p11.2). Am J Med Genet 1998;81:179-85.
Corrispondenza: angelo.selicorni61@gmail.com
