title: [Smith-Magenis syndrome].
abstract: Smith-Magenis syndrome is caused by a 17p11.2 deletion. It associates mental retardation, facial dysmorphism and brachydactyly; aberrant behavior and major sleep problems are present in 70% of the cases. It is probably under-diagnosed because the facial abnormalities are mild and the behavioral problems with hyperactivity and self-injuries are dominant, leading to the diagnosis of psychiatric pathology. However these behavioral problems are sufficiently characterized to allow the diagnosis of the syndrome and look for a 17p11.2 microdeletion. Otorhinolaryngologic, ophthalmologic, cardiac and renal abnormalities can be associated and their evaluation is necessary. Smith-Magenis syndrome is considered as a contiguous gene syndrome. Genes have been mapped and isolated to the critical region, but their participation in the pathogenesis of the syndrome remains unclear.
authors.affiliation: Service de neurologie pédiatrique, hôpital d'enfant de la Timone, Marseille, France.
authors.forename: M O
authors.initials: MO
authors.lastname: Livet
authors.forename: A
authors.initials: A
authors.lastname: Moncla
authors.forename: B
authors.initials: B
authors.lastname: Delobel
authors.forename: M F
authors.initials: MF
authors.lastname: Croquette
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: L
authors.initials: L
authors.lastname: Vallée
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D005145:Face / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome
vernacular_title: Le syndrome de Smith-Magenis.