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

Da Chang Chu, Sara C. Finley, Daniel W. Young, Virginia K. Proud*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

37 Scopus citations

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 1/4 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.

Original languageEnglish
Pages (from-to)205-209
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume72
Issue number2
DOIs
StatePublished - 17 10 1997
Externally publishedYes

Keywords

  • CNS malformation
  • Intracranial arachnoid cyst
  • Kabuki syndrome

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