Schinzel-Giedion Syndrome and Psychomotor Retardation: A case report.

, Yoon, Joon Shik; , Kim, Gui Sang; , Sim, Kyu Hun; , Kim, Sei Joo

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2004;28(4):379-382.

Yoon, Joon Shik , Kim, Gui Sang , Sim, Kyu Hun , Kim, Sei Joo

Department of Rehabilitation Medicine, Korea University College of Medicine, Korea. koissa@naver.com

발달 장애를 동반한 Schinzel-Giedion 증후군⁣증례 보고⁣

윤준식, 김귀상, 심규훈, 김세주

고려대학교 의과대학 재활의학교실

Abstract

We reported a girl diagnosed Schinzel-Giedion syndrome with severe psychomotor retardation and malformation that was characterized by mid face retraction, scoliosis, skull anomaly, wide cranial fontanels, brain cortical atropy, atrial septal defect, and hydronephrosis. Urinary tract infection, respiratorytract infection, and seizure were common. The neurodevelopment therapy was not effective and developmental stage was not improved. Spasticity was the only findings which was improved. (J Korean Acad Rehab Med 2004; 28: 379-382)

Key Words: Schinzel-Giedion syndrome, Psychomotor retardation, Malformation