Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome |
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Authors: | Jin Ho Hong Ha Young Lee Myung Kwan Lim Mi Young Kim Young Hye Kang Kyung Hee Lee Soon Gu Cho |
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Institution: | Department of Radiology, Inha University Hospital, Inha University School of Medicine, Incheon 400-711, Korea. |
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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. |
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Keywords: | Cri-du-Chat syndrome Genetic disorder Brain stem hypoplasia Brain MRI |
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