Long-term follow-up of three individuals with Kabuki syndrome.

TitleLong-term follow-up of three individuals with Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2004
AuthorsShalev SA, Clarke LA, Koehn D, Langlois S, Zackai EH, Hall JG, McDonald-McGinn DM
JournalAmerican journal of medical genetics. Part A
Volume125A
Issue2
Pagination191-200
Date Published2004 Mar 1
Abstract

Long-term follow-up of three individuals with Kabuki syndrome indicates their phenotypei becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissuresi persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed.

Alternate JournalAm. J. Med. Genet. A
Citation Key14981723