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Korean J Radiol.  2013 Dec;14(6):960-962. 10.3348/kjr.2013.14.6.960.

Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

Affiliations
  • 1Department of Radiology, Inha University Hospital, Inha University School of Medicine, Incheon 400-711, Korea. pengoon@gmail.com

Abstract

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

Keyword

Cri-du-Chat syndrome; Genetic disorder; Brain stem hypoplasia; Brain MRI

MeSH Terms

Brain Stem/*pathology
Cri-du-Chat Syndrome/*complications/diagnosis
Diagnosis, Differential
Female
Humans
Infant
Magnetic Resonance Imaging/*methods
Pons/pathology
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