A Case of Schinzel-Giedion Syndrome

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.