Kabuki make-up syndrome and hearing impairment.

TitleKabuki make-up syndrome and hearing impairment.
Publication TypeJournal Article
Year of Publication1993
AuthorsSay B, McCutcheon L, Todd C, Hough JV
JournalClinical dysmorphology
Date Published1993 Jan

In 1981, Niikawa et al. and Kuroki et al. independently described patients with a new syndrome consisting of mental retardation, postnatal growth deficiency and unusual facial features such as long palpebral fissuresi with eversioni of the laterali one-third of the lower eyelids, arched and laterally sparse eyebrows and large prominent ears among other malformations. The condition has been called Kabuki make-up syndrome because the facial features in affected individuals resemble the make-up of the actors in a Japanese play: Kabuki. After the initial reports on Japanese individuals, the condition has been observed in several other patients of different ethnic origins including a few patients from this country (Kaiser-Kupfer et al., 1986; Pagon et al., 1986). We describe an additional 13-year-old male patient with Kabuki make-up syndrome with possible implication of autosomal dominant inheritance from his mother. Interestingly, our patient also displayed hitherto unreported severe ossicular malformations resulting in significant hearing impairment.

Alternate JournalClin. Dysmorphol.
Citation Key8298741