Kabuki syndrome: A review

Clinical Genetics

Volumn 67, Issue 3, 2005, Pages 209-219

  Adam, Margaret P ^a   Hudgins, L ^a  

^a STANFORD UNIVERSITY   (United States)

Author keywords

Kabuki make up syndrome; Kabuki syndrome; Niikawa Kuroki syndrome

Indexed keywords

CARDIOVASCULAR MALFORMATION; CHROMOSOME ABERRATION; CHROMOSOME TRANSLOCATION 10; CHROMOSOME TRANSLOCATION 3; CLINICAL EXAMINATION; CLINICAL FEATURE; DERMATOGLYPHICS; DIFFERENTIAL DIAGNOSIS; DIGESTIVE SYSTEM MALFORMATION; ENDOCRINE DISEASE; ETHNIC GROUP; EYE MALFORMATION; EYEBROW; EYELID DISEASE; FACE DEFORMITY; GROWTH RETARDATION; HEMATOLOGIC DISEASE; HUMAN; JAPAN; KABUKI MAKEUP SYNDROME; KIDNEY MALFORMATION; LUNG MALFORMATION; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; MUSCULOSKELETAL SYSTEM MALFORMATION; NOSE DISEASE; OTITIS MEDIA; PATIENT CARE; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; PROMINENT EAR; SHORT STATURE; SHORT SURVEY; SKELETON MALFORMATION; TOOTH MALFORMATION; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; FACE; HUMANS; JAPAN; MENTAL RETARDATION; PREVALENCE; SYNDROME;

EID: 14044272145     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00348.x     Document Type: Short Survey

References (73)

1. Niikawa N, Matsuura N. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981: 99: 565-569.
2. Kuroki Y, Suzuki Y, Chyc, H 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 Pediatr 1981: 99: 570-573.
3. Niikawa N, Kuroki Y, Kajii T et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988: 31: 565-589.
4. Braun OH, Schmid E. Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in Europe. J Pediatr 1984: 105: 849-850.
5. Ilyina H, Lurie I, Naumtchik I et al. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations. Am J Med Genet 1995: 56: 127-131.
6. Courtens W, Rassart A, Stene J et al. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. Am J Med Genet 2000: 93: 244-249.
7. Kokitsu-Nakata NM, Vendramini S, Guion-Almeida M. Lower lip pits and anorectal anomalies in Kabuki syndrome. Am J Med Genet 1999: 86: 282-284.
8. Ho HH, Eaves LC. Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features. Dev Med Child Neurol 1997: 39: 487-490.
9. Gillis R, Klar A, Gross-Kieselstein E. The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child. Clin Genet 1990: 38: 378-381.
10. Philip N, Meinecke P, David A et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. Clin Dysmorphol 1992: 1: 63-77.
11. Burke LW, Jones MC. Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. Cleft Palate Craniofac J 1995: 32: 77-84.
12. PeBenito R, Ferretti C. Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in a black child. Ann Ophthalmol 1989: 21: 312-315.
13. White SM, Thompson EM, Kidd A et al. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet 2004: 127: 118-127.
14. Kaiser-Kupfer MI, Mulvihill JJ, Klein KL et al. The Niikawa-Kuroki (Kabuki make-up) syndrome in an American black. Am J Ophthalmol 1986: 102: 667-668.
15. Mulvihill JJ, Kaiser-Kupfer MI. Niikawa-Kuroki (Kabuki make-up) syndrome. Am J Med Genet 1989: 33: 425.
16. Schrander-Stumpel C, Meinecke P, Wilson G et al. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 1994: 153: 438-445.
17. Wilson G. Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management. Am J Med Genet 1998: 79: 112-120.
18. Kawame H, Hannibal C, Hudgins L et al. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 1999: 134: 480-485.
19. Wessels MW, Brooks AS, Hoogeboom J et al. Kabuki syndrome: a review study of three hundred patients. Clin Dysmorphol 2002: 11: 95-102.
20. Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. Am J Med Genet 2003: 117C: 57-65.
21. Kluijt I, van Dorp DB, Kwee ML et al. Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features. Ophthalmic Genet 2000: 21: 51-61.
22. Devriendt K, Lemli L, Craen M et al. Growth hormone deficiency and premature thelarche in a female infant with Kabuki makeup syndrome. Horm Res 1995: 43: 303-306.
23. Makita Y, Yamada K, Miyamoto A et al. Kabuki make-up syndrome is not caused by microdeletion close to the Van Der Woude syndrome critical region at 1q32-q41. Am J Med Genet 1999: 86: 285-288.
24. Kawada Y, Noda M, Yamagishi M. Growth hormone insufficiency in Kabuki makeup syndrome. Acta Paediatr Scand Suppl 1990: 370: 196.
25. Ogawa A, Yasumoto S, Tomoda Y et al. Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. J Child Neurol 2003: 18: 549-551.
26. Oksanen VE, Arvio MA, Peippo MM et al. Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome. Pediatr Neurol 2004: 30: 67-70.
27. Powell HWR, Hart PE, Sisodiya SM. Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. Dev Med Child Neurol 2003: 45: 841-843.
28. Di Gennaro G, Condoluci C, Casali C et al. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. Pediatr Neurol 1999: 21: 566-568.
29. Kasuya H, Shimizu T, Nakamura S et al. Kabuki make-up syndrome and report of a case with hydrocephalus. Childs Nerv Syst 1998: 14: 230-235.
30. Chu DC, Finley SC, Young DW et al. CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review. Am J Med Genet 1997: 72: 205-209.
31. Peterson-Falzone SJ, Golabi M, Lalwani AK. Otolaryngologic manifestations of Kabuki syndrome. Int J Pediatr Otorhinolaryngol 1997: 38: 227-236.
32. Van Haelst MM, Brooks AS, Hoogeboom J et al. Unexpected life-threatening complications in Kabuki syndrome. Am J Med Genet 2000: 94: 170-173.
33. Matsune K, Shimizu T, Tohama T et al. Craniofacial and dental characteristics of Kabuki syndrome. Am J Med Genet 2001: 98: 185-190.
34. Handa Y, Maeda K, Toida M et al. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate. J Craniomaxillofac Surg 1991: 19: 99-101.
35. Franceschini P, Vardeu MP, Guala A et al. Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 1993: 47: 423-425.
36. Mhanni AA, Cross HG, Chudley AE et al. Kabuki syndrome: description of dental findings in 8 patients. Clin Genet 1999: 56: 154-157.
37. Lerone M, Priolo M, Naselli A et al. Ectodermal abnormalities in Kabuki syndrome. Am J Med Genet 1997: 73: 263-266.
38. Pagon RA, Downing AL, Ruvalcaba RH. Kabuki make-up syndrome in a Caucasian. Ophthalmic Paediatr Genet 1986: 7: 97-100.
39. Digilio MC, Marino B, Toscano A et al. Congenital heart defects in Kabuki syndrome. Am J Med Genet 2001: 100: 269-274.
40. Ming JE, Russel KL, Bason L et al. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from Charge association. Am J Med Genet 2003: 123: 249-252.
41. Ohdo S, Madokoro H, Sonoda T et al. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. J Med Genet 1985: 22: 126-127.
42. Galan-Gomez E, Cardesa-Garcia JJ, Campo-Sampedro FM et al. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet 1995: 59: 276-282.
43. Hughes HE, Davies SJ. Coarctation of the aorta in Kabuki syndrome. Arch Dis Child 1994: 70: 512-514.
44. Tsukahara M, Kuroki Y, Imaizumi K et al. Dominant inheritance of Kabuki make-up syndrome. Am J Med Genet 1997: 73: 19-23.
45. Donadio A, Garavelli L, Banchini G et al. Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients? Am J Med Genet 2000: 91: 164-165.
46. Scherer S, Theile U, Beyer B et al. Patient with Kabuki syndrome and acute leukemia. Am J Med Genet 2003: 122: 76-79.
47. Ewart-Toland A, Enns GM, Cox VA et al. Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. Am J Med Genet 1998: 80: 362-367.
48. Iwama Y, Sugiyama S, Kaiga K et al. Kabuki makeup syndrome associated with megaureter. Acta Paediatr Jpn 1987: 29: 182-185.
49. Matsumura M, Yamada R, Kitani Y et al. Anorectal anomalies associated with Kabuki make-up syndrome. J Pediatr Surg 1992: 12: 1600-1602.
50. Ikegawa S, Sakaguchi R, Kimizuka M et al. Recurrent dislocation of the patella in Kabuki make-up syndrome. J Pediatr Orthop 1993: 13: 265-267.
51. Niikawa N, Kuroki Y, Kajii T. The dermatoglyphic pattern of the Kabuki make-up syndrome. Clin Genet 1982: 21: 315-320.
52. Bereket A, Turan S, Alper G et al. Two patients with Kabuki syndrome presenting with endocrine problems. J Pediatr Endocrinol Metab 2001: 14: 215-220.
53. Kuroki Y, Katsumata N, Eguchi T et al. Precocious puberty in Kabuki makeup syndrome. J Pediatr 1987: 110: 750-752.
54. Pescovitz OH, Hench KD, Barnes KM et al. Premature thelarche and central precocious puberty: the relationship between clinical presentation and the gonadotropin response to luteinizing hormone-releasing hormone. J Clin Endocrinol Metab 1988: 67: 474-479.
55. Fujishior M, Ogihara T, Tsukuda K et al. A case showing an association between type 1 diabetes mellitus and Kabuki syndrome. Diabetes Res Clin Pract 2003: 60: 25-31.
56. Chrzanowska KH, Krajewska-Walasek M, Kus J et al. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency. Clin Genet 1998: 53: 308-312.
57. Hostoffer RW, Bay CA, Wagner K et al. Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies. Clin Pediatr 1996: 35: 273-276.
58. Halal F, Gledhill R, Dudkiewicz A. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 1989: 33: 376-381.
59. Upton S, Stadter CS, Landis P et al. Speech characteristics in the Kabuki syndrome. Am J Med Genet 2003: 116: 338-341.
60. Li M, Zackai EH, Niikawa N et al. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/Velocardiofacial chromosomal region within 22q11.2. Am J Med Genet 1996: 65: 101-103.
61. Wellesley DG, Slaney S. Kabuki make-up and turner syndromes in the same patient. Clin Dysmorphol 1994: 3: 297-300.
62. Abd SE, Wilson L, Howlin P et al. Agenesis of the corpus callosum in turner syndrome with ring X. Dev Med Child Neurol 1997: 39: 119-124.
63. McGinniss MJ, Brown DH, Burke LW et al. Ring chromosome X in a child with manifestations of Kabuki syndrome. Am J Med Genet 1997: 70: 37-42.
64. Stankiewicz P, Thiele H, Giannakudis I et al. Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression. Am J Med Genet 2001: 102: 286-292.
65. Lo IF, Cheung LY, Ng AY et al. Interstitial dup (1p) with findings of Kabuki make-up syndrome. Am J Med Genet 1998: 78: 55-57.
66. Fryns JP, Van den Berghe H, Schrander-Stumpel C. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4. Am J Med Genet 1994: 53: 204-205.
67. Jardine PE, Burvill-Holmes LC, Schutt WH et al. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome. Clin Dysmorphol 1993: 2: 269-273.
68. Lynch SA, Ashcroft KA, Zwolinski S et al. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. J Med Genet 1995: 32: 227-230.
69. Say B, McCutcheon L, Todd C et al. Kabuki make-up syndrome and hearing impairment. Clin Dysmorphol 1993: 2: 68-70.
70. Kobayashi O, Sakuragawa N. Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 1996: 61: 92-93.
71. Shotelersuk V, Punyashthiti R, Srivuthana S et al. Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. Am J Med Genet 2002: 110: 384-390.
72. Milunsky JM, Huang JM. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 2003: 64: 509-516.
73. Miyake N, Harada N, Shimokawa O et al. On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. Am J Med Genet 2004: 128: 170-172.