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http://dx.doi.org/10.3348/kjr.2013.14.6.960

Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome  

Hong, Jin Ho (Department of Radiology, Inha University Hospital, Inha University School of Medicine)
Lee, Ha Young (Department of Radiology, Inha University Hospital, Inha University School of Medicine)
Lim, Myung Kwan (Department of Radiology, Inha University Hospital, Inha University School of Medicine)
Kim, Mi Young (Department of Radiology, Inha University Hospital, Inha University School of Medicine)
Kang, Young Hye (Department of Radiology, Inha University Hospital, Inha University School of Medicine)
Lee, Kyung Hee (Department of Radiology, Inha University Hospital, Inha University School of Medicine)
Cho, Soon Gu (Department of Radiology, Inha University Hospital, Inha University School of Medicine)
Publication Information
Korean Journal of Radiology / v.14, no.6, 2013 , pp. 960-962 More about this Journal
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
Cri-du-Chat syndrome; Genetic disorder; Brain stem hypoplasia; Brain MRI;
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