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CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review

✍ Scribed by Chu, Da-Chang; Finley, Sara C.; Young, Daniel W.; Proud, Virginia K.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 38 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971017)72:2<205::aid-ajmg15>3.0.co;2-r

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✦ Synopsis

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. Am.

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