Kabuki make-up syndrome in a Caucasian.

TitleKabuki make-up syndrome in a Caucasian.
Publication TypeJournal Article
Year of Publication1986
AuthorsPagon RA, Downing AL, Ruvalcaba RH
JournalOphthalmic paediatrics and genetics
Volume7
Issue2
Pagination97-100
Date Published1986 Aug
Abstract

A 20-year-old Caucasian female with the Kabuki make-up syndrome had adolescent onset cataracts and delayed sexual maturation with evidence of primary ovarian dysfunction. These features have not been described in other patients with this disorder, all of whom have been younger. This patient also had cystic fibrosis, which may be a fortuitous association.

Alternate JournalOphthalmic Paediatr Genet
Citation Key3785884