Schinzel-Giedion Syndrome and Psychomotor Retardation: A case report.
- Author:
Joon Shik YOON
1
;
Gui Sang KIM
;
Kyu Hun SIM
;
Sei Joo KIM
Author Information
1. Department of Rehabilitation Medicine, Korea University College of Medicine, Korea. koissa@naver.com
- Publication Type:Case Report
- Keywords:
Schinzel-Giedion syndrome;
Psychomotor retardation;
Malformation
- MeSH:
Brain;
Cranial Fontanelles;
Female;
Heart Septal Defects, Atrial;
Humans;
Hydronephrosis;
Muscle Spasticity;
Respiratory Tract Infections;
Scoliosis;
Seizures;
Skull;
Urinary Tract Infections
- From:Journal of the Korean Academy of Rehabilitation Medicine
2004;28(4):379-382
- CountryRepublic of Korea
- Language:Korean
-
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.
