Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings.
Publication/Presentation Date
5-15-2025
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.
Volume
169
First Page
93
Last Page
97
ISSN
1873-5150
Published In/Presented At
Wright, R., Burrill, N., Crane, H., Khalek, N., Gebb, J., Bach, A. M., Whitehead, M. T., Zarnow, D., Oliver, E., Agarwal, S., & Moldenhauer, J. S. (2025). Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings. Pediatric neurology, 169, 93–97. Advance online publication. https://doi.org/10.1016/j.pediatrneurol.2025.05.014
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
40479960
Department(s)
Department of Pediatrics
Document Type
Article