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.