Autistic-Like Traits in Pena-Shokeir Syndrome

J Autism Dev Disord. 2019 Mar;49(3):1316-1318. doi: 10.1007/s10803-018-3824-2.

Abstract

Pena-Shokeir syndrome (PSS) is a rare, early lethal disease. PSS is characterized by fetal growth restriction, craniofacial deformities, multiple ankyloses and pulmonary hypoplasia. Because of the primary concern of physical health problems, psychiatric evaluation is frequently underestimated in PSS patients. Our case report describes a child with PSS who presented with autistic spectrum disorder symptoms.

Keywords: Autism; Autistic traits; Pena–Shokeir syndrome.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Autistic Disorder / complications*
  • Bone and Bones / abnormalities*
  • Child, Preschool
  • Eye Abnormalities / complications*
  • Face / abnormalities*
  • Humans
  • Male

Supplementary concepts

  • Pena Shokeir syndrome Type 2