A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome.

TitleA case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome.
Publication TypeJournal Article
Year of Publication2004
AuthorsDavid G, Sillence D, Hardwick R, Opitz JM
JournalAmerican journal of medical genetics. Part A
Volume130A
Issue4
Pagination389-92
Date Published2004 Nov 1
Abstract

We report a 2-year-old boy with overlapping manifestations of the Kabuki (Niikawa-Kuroki) and Opitz trigonocephalyi syndromes. The proband was initially diagnosed with Opitz trigonocephaly syndrome on the basis of metopici craniosynostosisi, upslanting palpebral fissuresi, high arched palate, redundanti skin folds at the back of the neck, ventricular septal defecti, broad flat thumbs, bilaterali single palmar creases, left talipes equinovarus, eventrationi of right hemidiaphragm, and bilateral inguinali herniai. However, as he grew older, his facial profile changed to that typical of Kabuki syndrome.

Alternate JournalAm. J. Med. Genet. A
Citation Key15389716