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

TitleCNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review.
Publication TypeJournal Article
Year of Publication1997
AuthorsChu DC, Finley SC, Young DW, Proud VK
JournalAmerican journal of medical genetics
Volume72
Issue2
Pagination205-9
Date Published1997 Oct 17
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 cysti at age 5 1/2 years. Review of the 143 published cases shows that while malformations may be found in the endocrinei, cardiac, genitourinary and skeletal systems, this is the first case of Kabuki syndrome with a major central nervous system malformation.

Alternate JournalAm. J. Med. Genet.
Citation Key9382144