A Case of Schinzel-Giedion Syndrome.
- Author:
Hwa Young PARK
1
;
Sung Sin KIM
;
Yun Sil CHANG
;
Won Soon PARK
;
Hae Keoung YOON
;
Bo Keoung KIM
Author Information
1. Department of Pediatrics, College of Medicine Sungkyunkwan University, Samsung Medical Center, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Schinzel-giedion syndrome;
Sacrococcygeal teratoma
- MeSH:
Humans;
Infant;
Korea;
Male;
Teratoma
- From:Journal of the Korean Society of Neonatology
2000;7(1):59-63
- CountryRepublic of Korea
- Language:Korean
-
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.
