Pfeiffer Syndrome Type II: Cloverleaf Skull and Hydrocephalus Discovered on Fetal MRI

Abstract

Pfeiffer syndrome (PS) is a rare hereditary condition with predominantly complicated craniofacial anomalies due to osteochondrodysplasia with craniosynostosis. Based on the clinical findings, it is divided into three subtypes. We report a case of PS type II, discovered on the antenatal ultrasonography and confirmed on the fetal magnetic resonance imaging (MRI). We shall discuss the clinical and radiological features and the advantage of fetal MRI to confirm and evaluate the fetus for other associated anomalies. According to the MEDLINE search, only one case so far has been reported with in utero fetal MRI findings of PS II.