title: CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review.
abstract: Kabuki (Niikawa-Kuroki) syndrome (KS) comprises characteristic facial changes, developmental delay, skeletal anomalies, mental retardation, and abnormal dermatoglyphics. We report on a 5-year-old Caucasian boy with KS who required surgery for a giant left temporoparietal subarachnoid cyst at age 5 1/2 years. Review of the 143 published cases shows that while malformations may be found in the endocrine, cardiac, genitourinary and skeletal systems, this is the first case of Kabuki syndrome with a major central nervous system malformation.
authors.affiliation: Laboratory of Medical Genetics, University of Alabama at Birmingham, USA.
authors.forename: D C
authors.initials: DC
authors.lastname: Chu
authors.forename: S C
authors.initials: SC
authors.lastname: Finley
authors.forename: D W
authors.initials: DW
authors.lastname: Young
authors.forename: V K
authors.initials: VK
authors.lastname: Proud
mesh_terms: D000015:Abnormalities, Multiple; D016080:Arachnoid Cysts / Q000151:congenital* / Q000000981:diagnostic imaging / Q000601:surgery; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D019066:Facies; D006801:Humans; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed