title: Kabuki make-up syndrome and hearing impairment.
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.
authors.affiliation: H. Allen Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, OK 74135.
authors.forename: B
authors.initials: B
authors.lastname: Say
authors.forename: L
authors.initials: L
authors.lastname: McCutcheon
authors.forename: C
authors.initials: C
authors.lastname: Todd
authors.forename: J V
authors.initials: JV
authors.lastname: Hough
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D004429:Ear Ossicles / Q000002:abnormalities* / Q000637:transplantation; D005145:Face / Q000002:abnormalities*; D005149:Facial Expression; D005385:Fingers / Q000002:abnormalities; D006312:Hearing Loss, Bilateral / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012600:Scoliosis / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities