Fetal magnetic resonance imaging of a hypothalamic hamartoma in Pallister-Hall Syndrome

Introduction: Pallister-Hall syndrome is a pleiotropic disorder of human development. It is characterized by postaxial polydactyly, hypothalamic hamartoma, imperforate anus, bifid epiglottis, renal abnormalities and pulmonary segmentation anomalies. We describe a unique case where MRI of the fetal brain allowed the prenatal diagnosis of PHS. Case report: In the 37th week of gestation, fetal sonography revealed hexadactyly of the right foot and an unclear intracranial lesion with suspicious dilatation of the third ventricle was described. Fetal MR images demonstrated a large suprasellar and prepontine mass. The i…