J Korean Acad Rehabil Med.
2004 Aug;28(4):379-382.
Schinzel-Giedion Syndrome and Psychomotor Retardation: A case report
- Affiliations
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- 1Department of Rehabilitation Medicine, Korea University College of Medicine, Korea. koissa@naver.com
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, respiratory tract 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.
