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Indexed/Abstracted in: EMBASE, Scopus
Online ISSN 1827-188X
Gargano R., Gallina S., Polizzi V., Restivo G., Speciale R.
Department of Otolaryngology University of Palermo, Palermo, Italy
Kabuki syndrome (KS), also identified as Kabuki make-up syndrome or Niikawa-Kuroki syndrome, is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristics resembling the Kabuki actor’s make-up, cleft or high-arched palate, brachydactyly, scoliosis, and persistence of finger pads. There is no definitive laboratory diagnostic test for KS, thus diagnosis is based on phenotypic presentation and the exclusion of other known syndromes. Familial cases have been reported and autosomal dominant inheritance has been suggested. The most common otolaryngologic abnormalities in KS are large and protruding ears, preauricular fistula, mixed hearing loss, cleft lip, cleft palate. We report a case of KS associated with relapsing cholesteatoma and its management.