Format

Send to

Choose Destination
Korean J Radiol. 2013 Nov-Dec;14(6):960-2. doi: 10.3348/kjr.2013.14.6.960. Epub 2013 Nov 5.

Brain stem hypoplasia associated with Cri-du-Chat syndrome.

Author information

1
Department of Radiology, Inha University Hospital, Inha University School of Medicine, Incheon 400-711, Korea.

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.

KEYWORDS:

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

PMID:
24265573
PMCID:
PMC3835645
DOI:
10.3348/kjr.2013.14.6.960
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for The Korean Radiological Society Icon for PubMed Central
Loading ...
Support Center