A Case of Schinzel-Giedion Syndrome

ABSTRACT

Schinzel-Giedion syndrome (SGS) is a rare malformation syndrome characterized by severe midface retraction, multiple congenital malformations including hydronephrosis, congenital heart defect, skeletal anomalies and hypertrichosis, and a higher prevalence of tumors. We experienced a case of a male newborn with SGS showing midface retraction with infraorbital deep groove, hypospadia, bilateral hydronephrosis, and hypotonia. At the age of 2 months, hepatosplenogmegaly with unknown cause appeared. There was no evidence of hepatoblastoma in abdominal computed tomography. SGS is known to have an autosomal recessive inheritance pattern. Recently, it has been suggested that de novo mutations of SETBP1 causes SGS. However, there has been no report regarding the genetic analysis of SGS in the Korean population. We first sequenced the exones using array CGH and SETBP1 gene analysis in Korea. However, no specific gene mutation was apparent.