Full text in pdf format

Brief clinical report: the kabuki make-up syndrome in a Brazilian boy

Yolande van Bever; Jenny J. van den Ende

Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais-USP, Caixa Postal 620, 17043-900 Baum, SP, Brasil

ABSTRACT

The Kabuki make-up Syndrome is a MCA/MR recurrent-pattern syndrome with a characteristic facial appearance. So far it is principally described in Japanese (58 out of 62 patients) (Niikawa et al., Am. J. Med. Genet. 31: 565-589, 1988). Here we report on a rather typical case in a Brazilian boy of non-Japanese extraction.

Keywords: Kabuki make-up syndrome.

REFERENCES

Benito, P.R. and Ferreti, C. (1989). Kabuki make-up syndrome (Niikawa-Kuroki syndrome) in a black child. Ann. Ophthalmol. 21: 312-315.

Braun, O.H. and Schmid, E. (1986). Niikawa-Kuroki Syndrom (sog. Kabuki-make-up Syndrom). Klin. Pediatr. 198: 65-68.

Gorlin, R.J., Cohen, M.M. Jr. and Levin, L.S. (1990). Oxford Monographs on Medical Genetics (no. 19). Syndromes of the head and Neck. 3rd Edition. Oxford University Press. pp. 762-763.

Halal, F., Gledhill, R. and Dudkiewicz, A. (1989). Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Am. J. Med. Genet. 33: 376-381.

Kaiser-Kupfer, M.I., Milvihill, J.J., Klein, K.L., Parry, D.M. and Schlesinger, S.L. (1986). The Niikawa-Kuroki (Kabuki make-up) syndrome in an American Black. Am. J. Ophthalmol. 102: 667-668.

Kuroki, Y., Suzuki, Y., Chiyo, FI., Hata, A. and Matsui, I. (1981). A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J. Pediat. 99: 570-573.

McKusick, V.A. (1990). Kabuki make-up syndrome (KMS; Niikawa-Kuroki syndrome). In: Mendelian Inheritance in Man Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes. (The Johns Hopkins University Press). Baltimore, pp. 545.

Mulvihill, J.J. and Kaiser-Kupfer, M.I. (1989). Letter to the Editor: Niikawa-Kuroki (Kabuki make-up) syndrome. Am. J. Med Genet. 33: 425.

Niikawa, N., Matsuura, N., Fukushima, Y., Ohsawa, T. and Kajii, T. (1981). Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J. Pediat. 99: 565-569.

Niikawa, N., Kuroki, Y. and Kajii, T. (1982). The dermatoglyphic pattern of the Kabuki make-up syndrome. Clin. Genet. 21: 315-320.

Niikawa, N., Kuroki, Y., Kajii, T., Matssura, N., Ishikiriyama, S., Tonoki, H., Ishikawa, N., Yamada, Y., Fujita, Umemoto, H., Iwama, Y., Kondoh, I., Fukushima, Y., Nako, Y., Matsui, I., Urakami, T., Aritaki, S., Ham, M., Suzuki, Y., Shyo, H., Sugio, Y., Hasegawa, T., Yamanaka, T., Tsukino, R., Yoshida, A., Nomoto, Kawahito, S., Aihara, R., Toyota, S., Ieshima, A., Funaki, H., Ishitobi, K., Ogura, S., Furumae T., Yoshino, M., Tsujii, Y., Kondoh, T., T., Matsumoto, T., Abe, K., Harada, N., Miike, T., Ohdo, S., Naritoni, K., Abushwereb, A.K., Brown, O.H. and Schmid, E. (1988). Kabuki Make-Up (Niikawa-Kuroki) Syndrome: A Study of 62 Patients. Am. J. Med. Genet. 31: 565-589.

Pagon, R.A., Downing, A.L. and Ruvalcaba, R.H.A. (1986). Kabuki make-up syndrome in a caucasian. Ophthalmol. Pediatr. Genet. 7: 97-100.

Sheikh, T.M., Qasi, Q.H. and Beller, E. (1986). Niikawa-Kuroki syndrome (Kabuki Make-Up syndrome) in a Hispanic child. Pediatr. Res. 20: 340A.