Case of Myhre syndrome with autism and peculiar skin histological findings

Am J Med Genet. 2001 Oct 1;103(2):163-5. doi: 10.1002/ajmg.1517.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Autistic Disorder / pathology*
  • Craniofacial Abnormalities*
  • Cytogenetic Analysis
  • Growth Disorders / pathology*
  • Humans
  • Intellectual Disability / pathology*
  • Male
  • Muscular Diseases / pathology
  • Skin Abnormalities*
  • Syndrome