[Kabuki syndrome].

Title[Kabuki syndrome].
Publication TypeJournal Article
Year of Publication1998
AuthorsPetersen RB, Lindholm P, Bonde CT
JournalUgeskrift for laeger
Volume172
Issue18
Pagination1384-5
Date Published2010 May 3
ISSN1603-6824
KeywordsAbnormalities, Multiple, Child, Preschool, Cleft Palate, Craniofacial Abnormalities, Diagnosis, Differential, Humans, Male, Psychomotor Disorders, Rare Diseases, Syndrome
Abstract

A clinical case of the rare Kabuki syndrome is described in a 2-year-old boy. At the time of birth he was diagnosed with cleft palatei and from the age of six months he presented with unusual facial features and slow psychomotoric development. At the age of two he has no language and only minimal speech perception and is showing signs of growth retardation.

Alternate JournalUgeskr. Laeg.
Citation Key405