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 language | English |
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Pages (from-to) | 205-209 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics |
Volume | 72 |
Issue number | 2 |
DOIs | |
State | Published - 17 10 1997 |
Externally published | Yes |
Keywords
- CNS malformation
- Intracranial arachnoid cyst
- Kabuki syndrome