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  • Title: Kabuki make-up syndrome and hearing impairment.
    Author: Say B, McCutcheon L, Todd C, Hough JV.
    Journal: Clin Dysmorphol; 1993 Jan; 2(1):68-70. PubMed ID: 8298741.
    Abstract:
    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 fissures with eversion of the lateral 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.
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