title: Case of Myhre syndrome with autism and peculiar skin histological findings.
abstract: Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility. We report on a 14-year-old boy with clinical findings consistent with a diagnosis of Myhre syndrome, associated with autism and peculiar skin histological findings.
authors.affiliation: Department of Pediatrics, Federico II University, Via S. Pansini 5, 80131 Naples, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Titomanlio
authors.forename: M G
authors.initials: MG
authors.lastname: Marzano
authors.forename: E
authors.initials: E
authors.lastname: Rossi
authors.forename: M
authors.initials: M
authors.lastname: D'Armiento
authors.forename: D
authors.initials: D
authors.lastname: De Brasi
authors.forename: G R
authors.initials: GR
authors.lastname: Vega
authors.forename: M V
authors.initials: MV
authors.lastname: Andreucci
authors.forename: A V
authors.initials: AV
authors.lastname: Orsini
authors.forename: L
authors.initials: L
authors.lastname: Santoro
authors.forename: G
authors.initials: G
authors.lastname: Sebastio
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D001321:Autistic Disorder / Q000473:pathology*; D019465:Craniofacial Abnormalities; D020732:Cytogenetic Analysis; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D009135:Muscular Diseases / Q000473:pathology; D012868:Skin Abnormalities; D013577:Syndrome