A Case of Schinzel-Giedion Syndrome. |
Hwa Young Park, Sung Sin Kim, Yun Sil Chang, Won Soon Park, Hae Keoung Yoon, Bo Keoung Kim |
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. |
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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. |
Key Words:
Schinzel-giedion syndrome; Sacrococcygeal teratoma |
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