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KMID : 0880420130140060960
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Korean Journal of Radiology
2013 Volume.14 No. 6 p.960 ~ p.962
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Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome
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Hong Jin-Ho
Lee Ha-Young
Lim Myung-Kwan
Kim Mi-Young
Kang Young-Hye
Lee Kyung-Hee
Cho Soon-Gu
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Abstract
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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.
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KEYWORD
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Cri-du-Chat syndrome, Genetic disorder, Brain stem hypoplasia, Brain MRI
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