J Korean Soc Neonatol.
2000 May;7(1):59-63.
A Case of Schinzel-Giedion Syndrome
- Affiliations
-
- 1Department of Pediatrics, College of Medicine Sungkyunkwan University, Samsung Medical Center, Seoul, Korea.
- 2Department of Radiology, College of Medicine Sungkyunkwan University, Samsung Medical Center, Seoul, Korea.
Abstract
- Schinzel-Giedion syndrome is a rare autosomal recessive condition characterized by a typical face including midface retraction, urogenital anomalies, and skeletal manifestations. So far 30 patients have been reported. This is the first report of this syndrome demonstrated in Korea. We describe a male infant with the typical findings of Schinzel-Giedion syndrome, also showing sacrococcygeal teratoma.
