The Kabuki (Niikawa-Kuroki) syndrome (KS) was first described in 1981.
1,2
Patients with the syndrome have postnatal growth deficiency, developmental delay, long palpebral fissures, eversion of the lateral portion of the lower eyelids, arched eyebrows with sparse lateral half, prominent ears, hearing impairment, thin upper lips, myopathic facies, fifth finger clinodactyly, prominent finger tip fat pads, congenital heart disease, premature thelarche, and a number of other common anomalies.
3,4
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, and cleft palate. We report here a case of KS with unilateral microtia to extend the spectrum of otologic abnormality for this syndrome.
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References
1.
KurokiYSuzukiYChyoH, et al. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr1981;99:570–3.
2.
NiikawaNMatsuuraNFukushimaY, et al. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr1981;99:565–9.
3.
NiikawaNKurokiYKajiiT, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet1988;31:565–89.
4.
Schrander-StumpelCMeineckePWilsonG, et al. The kabuki (Niikawa-Kuroki) syndrome: Further delineation of the pheno-type in 29 non-Japanese patients. Eur J Pediatr1994;153:438–45.
5.
IgawaHHNishizawaNSugiharaT, et al. Inner ear abnormalities in Kabuki make-up syndrome: Report of three cases. Am J Med Genet2000;92:87–9.
