Occlusal guidance of two Kabuki make-up syndrome patients: case reports

Kabuki make-up syndrome (KMS) has been reported since 1981 by Niikawa et al. Complications of KMS were moderate mental retardation, skeletal and dermatoglyphic abnormalities. A 7 year-old boy, who had severe permanent tooth deficiency, anterior open bite, tongue thrust and mild mental retardation, was referred to our clinic. Oral characters of another patient were an anterior open bite, transposition of maxillary central and lateral incisor. Orthodontic treatment in two patients is reported and suggested future treatment plans in these patients is given.

1. Niikawa N, Mastuura N, Fukushima Y, Ohsawa T, Kajii T. Kabiki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99: 565-569, 1981.

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

3. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, Lwama Y, Kondoh D, Fukushoma Y, Nako Y, Matsui I, Urakami T, Aritaki S, Hara M, Suzuki Y, Chyo H, Sugio Y, Hasegaea T, Yamanaka T, Tsukino R, Yoshida A, Nomoto N, Kawahito S, Aihara R, Toyota S,Ieshima A, Funaki H, Ishitobi K, Ogura S, Furumae T, Yoshino M, Tsuji Y, Kondoh T, Matsumoto T, Abe K, Harada N, Miike T, Ohdo S, Naritomi K, Abushwerel AK, Braum OH, Schmid E. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet 31: 565-589, 1988.

4. Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome. Clin Dysmorphol 2: 269-273, 1993.

5. Ivan FM Lo, Lauvena YK Cheung, Anita YY Ng, Stephan TS Lam. Interstitial dup(1p) with findings of Kabuki make-up syndrome. Am J Med Genet 78: 55-57, 1998.

6. Buruke LW, Jones MC. Kabuki syndrome, underdiagnosed recognizable pattern in cleft palate patients. Cleft Palate Craniofac J 32: 77-84, 1995.

7. Galan-Gomez E, Cardesa-Garcia JJ, Campo-Sampedro FM, Slamanca-Maesso C, Martinez-Frias ML, Frias JL. Kabuki makeup (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet 59: 276-282, 1995.

8. Lerone M, Priolo M, Naselli A, Vignolo M, Romeo G, Silengo MC. Ectodermal abnormalities in Kabuki syndrome. Am J Med Genet 73: 263-266, 1997.

9. Wilson GN. Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management. Am J Med Genet 79: 112-120, 1998.

10. Mhanni AA, Cross HG, Chudley AE. Kabuki syndrome: description of dental findings in 8 patients. Clin Genet 56: 154-157, 1999.

11. Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T. Craniofacial and dental characteristics of Kabuki syndrome. Am J Med Jenet 98: 185-190, 2001.

12. Iizuka T, Ishikawa F. Normal standards for various cephalometric analysis in Japanese adults [in Japanese]. J Jpn Orthod 16: 4-12,1957.

13. Sakamoto T. A study on the developmental changes of dentofacial complex of Japanese with special reference to sella trucica [in Japanese]. J Jpn Orthod 18: 1-18 1959.

14. Peterson-Falzone SJ, Golabi M, Lalwani AK. Otolaryngologic manifestations of Kabuki syndrome. Int J Paediatr Otorhinolaryngol 38: 227-236, 1997.

15. Kawame H, Hannibal MC, Hudgins L, Pagon RA. Phenotypic spectrum and management issues in Kabukui syndrome. J Paediatr 134: 480-485, 1999.

16. PeBenito R, Ferretti C. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) in a black child.Ann Ophthalmol 21: 312-315, 1989.

17. Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Corrias A, Chiabotto P. Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (NiikawaKuroki) syndrome. Am J Med Genet 47: 423-425, 1993.

18. Carcione A, Piro E, Albano S, Corsello G, Benenati A, Piccione M, Verde V, Giuffre L, Albanese A. Kabuki make-up (NiikawaKuroki) syndrome: clinical and radiological observation in two Sicilian children. Pediatr Radiol 21: 428-431, 1991.

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

20. Parmanand J, et al. Hypodontia: etiology, clinical features, and management. Quintessence Int 33: 294-302, 2002.

21. Bailit HL, Dental variation among populations: An anthropologic view (symposium on Genetics). Dent Clin North Am 19: 125-139, 1975.

22. Hobkrik JA, Brook AH.The management of patients with severe hypodontia. J Oral Rehabil 7: 289-298, 1980.

23. Brook AH. A unifying aetiological explanation for anomalies of human tooth number and size. Arch Oral Biol 29: 373-378, 1984.

24. Tsuchiya H, Kobayasi S, Cervenca J, Mori H, Oguro A. Analysis of the dentition and orofacial skeleton in Seckel’s bird headed dwarfism. J Maxillofac Surg 9: 170-175, 1981.

25. Bottomley WK, Box JM. Dental anomalies in the RothmundThomson syndrome: report a case. Oral Surg, Oral Med, Oral Pathol 41: 321-326,1976.

26. Sauk JJ Jr, Deraney JR. Taurodontism, diminished root formation and microcephalic dwarfism. Oral Surg, Oral Med, Oral Pathol 36: 231-235, 1973.

27. Plunkett DJ, Dysart PS, Kardos TB, Herbison GP. A study of transposed canines in a sample of orthodontic patients. Br J Orthod 181: 421-424, 1998.

28. Peck S, Peck L, Kataja M. Site-specificity of tooth agenes in subjects with maxillary canine malpositions.Angle Orthod 66: 473-476,1996.

29. Peck L, Peck S, Attia Y. Maxillary canine-first molar transposition, associated dental anomalies and genetic basis. Angle Orthod 63: 99-109, 1993.