Fetal Imaging Findings in a Case of Schinzel Giedion Syndrome
Author(s): Julliet Ogu, Thierry A.G.M. Huisman
Schinzel Giedion Syndrome (SGS) is an extremely rare congenital malformation syndrome caused by de novo mutations in the SETBP1 gene. This condition is characterized by distinctive craniofacial dysmorphisms such as midface retraction, severe intellectual disability, increased risk of embryonal tumors, and multiple congenital anomalies, particularly cardiac, renal, and urogenital defects. Characteristic abnormalities can be identified in the prenatal period and confirmed using molecular genetics. We present the prenatal and matching postnatal imaging findings in a case of confirmed Schinzel Giedion Syndrome.