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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.doi:10.5385/nm.2013.20.1.155 fatcat:yqtphbxs6jfvrctlzyr2isyfha