Case of Myhre syndrome with autism and peculiar skin histological findings.
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.
Titomanlio
L
L
Department of Pediatrics, Federico II University, Via S. Pansini 5, 80131 Naples, Italy.
Marzano
M G
MG
Rossi
E
E
D'Armiento
M
M
De Brasi
D
D
Vega
G R
GR
Andreucci
M V
MV
Orsini
A V
AV
Santoro
L
L
Sebastio
G
G
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