Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings

Abstract

Background: Although the postnatal presentation of cri du chat syndrome (CdCS) is well known, few cases have reported the fetal phenotype of this syndrome.

Methods: We aim to share novel magnetic resonance imaging (MRI) findings in prenatally diagnosed CdCS.

Results: Here we describe three cases of prenatally diagnosed CdCS, with pontine and cerebellar hypoplasia, identified by ultrasound and confirmed by fetal MRI.

Conclusions: These cases highlight an expansion of the CdCS phenotype and the importance of fetal MRI and prenatal genetic testing in assisting with prenatal diagnosis of CdCS.

Keywords: 5p deletion; Cerebellar hypoplasia; Cri-du-chat; Fetal MRI; Fetal neurology; Pontine hypoplasia; Prenatal diagnosis.