1.
Am J Med Genet
; 103(2): 163-5, 2001 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11568925
RESUMO
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.