Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• American journal of medical genetics, 1997-10, Vol.72 (2), p.205-209

Ort / Verlag

New York: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

1997

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 ½ 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. J. Med. Genet. 72:205–209, 1997. © 1997 Wiley‐Liss, Inc.