title: Brain stem hypoplasia associated with Cri-du-Chat syndrome.
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.
authors.affiliation: Department of Radiology, Inha University Hospital, Inha University School of Medicine, Incheon 400-711, Korea.
authors.forename: Jin Ho
authors.initials: JH
authors.lastname: Hong
authors.forename: Ha Young
authors.initials: HY
authors.lastname: Lee
authors.forename: Myung Kwan
authors.initials: MK
authors.lastname: Lim
authors.forename: Mi Young
authors.initials: MY
authors.lastname: Kim
authors.forename: Young Hye
authors.initials: YH
authors.lastname: Kang
authors.forename: Kyung Hee
authors.initials: KH
authors.lastname: Lee
authors.forename: Soon Gu
authors.initials: SG
authors.lastname: Cho
mesh_terms: D001933:Brain Stem / Q000473:pathology*; D003410:Cri-du-Chat Syndrome / Q000150:complications* / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D011149:Pons / Q000473:pathology
keywords: Brain MRI; Brain stem hypoplasia; Cri-du-Chat syndrome; Genetic disorder