Further delineation of Kabuki syndrome in 48 well-defined new individuals

American Journal of Medical Genetics

Volumn 132 A, Issue 3, 2005, Pages 265-272

  Armstrong, Linlea ^a,u   El Moneim, Azza Abd ^b   Aleck, Kirk ^c   Aughton, David J ^d,e   Baumann, Clarisse ^f   Braddock, Stephen R ^g   Gillessen Kaesbach, Gabriele ^h   Graham Jr , John M ⁱ   Grebe, Theresa A ^c   Gripp, Karen W ^j   Hall, Bryan D ^k   Hennekam, Raoul ^l   Hunter, Alasdair ^a   Keppler Noreuil, Kim ^m   Lacombe, Didier ^b   Lin, Angela E ⁿ   Ming, Jeffrey E ^o   Kokitsu Nakata, Nancy Mizue ^p   Nikkel, Sarah M ^a   Philip, Nicole ^q   Raas Rothschild, Annick ^r   Sommer, Annemarie ^s   Verloes, Alain ^f   Walter, Claudia ^h   Wieczorek, Dagmar ^h   Williams, Marc S ^t   Zackai, Elaine ⁿ   Allanson, Judith E ^a   more..

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b HÔPITAL PELLEGRIN   (France)

^c UNIVERSITY OF ARIZONA   (United States)

^d WILLIAM BEAUMONT HOSPITAL   (United States)

^e WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g University of Missouri   (United States)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^k UNIVERSITY OF KENTUCKY   (United States)

^l UNIVERSITY OF AMSTERDAM   (Netherlands)

^m UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

ⁿ Pediatric Service   (United States)

^o UNIVERSITY OF PENNSYLVANIA   (United States)

^p UNIVERSITY OF SÃO PAULO   (Brazil)

^q TIMONE HOSPITAL   (France)

^r HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^s OHIO STATE UNIVERSITY   (United States)

^t GUNDERSEN LUTHERAN MEDICAL CENTER   (United States)

^u CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

more..

Author keywords

Developmental delay; Finger pads; Hypoglycemia; Left ventricular outflow tract obstruction; Popliteal pterygium syndrome; Van der Woude syndrome; Wide palpebral fissures

Indexed keywords

INTERFERON; INTERFERON REGULATORY FACTOR 6; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; CONFERENCE PAPER; CYTOGENETICS; FAMILIAL DISEASE; GENE DUPLICATION; GENETIC ANALYSIS; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HUMAN; HYPOGLYCEMIA; KABUKI MAKEUP SYNDROME; PALPEBRAL FISSURE ANOMALY; PATERNAL AGE; PHENOTYPE; PRIORITY JOURNAL; QUESTIONNAIRE; VAN DER WOUDE SYNDROME; WEBBED NECK;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CARDIOVASCULAR ABNORMALITIES; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 8; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; FEMALE; GASTROINTESTINAL TRACT; GROWTH DISORDERS; HUMANS; IMMUNE SYSTEM; INTERFERON REGULATORY FACTORS; KARYOTYPING; MALE; MATERNAL AGE; MENTAL RETARDATION; MUSCULOSKELETAL ABNORMALITIES; PATERNAL AGE; REVIEW LITERATURE; SYNDROME; TRANSCRIPTION FACTORS; UROGENITAL ABNORMALITIES;

EID: 19944428186     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30340     Document Type: Conference Paper

References (50)

1. American College of Medical Genetics Statement on Guidance for Genetic Counseling in Advanced Paternal Age. 1996. http://www.acmg.net/Pages/ ACMG_Activities/policy_statements_pages/current/ Genetic_Counseling_in_Advanced_Paternal_Age_Statement_on_Guidance_for.asp.
2. Burke LW, Jones MC. 1995. Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate individuals. Cleft Palate Craniofacial J 32:77-84.
3. Center for Disease Control, National Center for Health Statistics, division of Data Services. 1970, 1999. http://www.cdc.gov/nchs/data/statab/ t991x23.pdf.
4. Chrzanowska KH, Krajewska-Walasek M, Kus J, Michalkiewicz J, Maziarka D, Wolski JK, Brecevic L, Madalinski K. 1998. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency. Clin Genet 53:308-312.
5. Crow JF. 2000. The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 1:40-50.
6. Dennis NR, Collins AL, Crolla JA, Cockwell AE, Fisher AM, Jacobs PA. 1993. Three individuals with ring (X) chromosomes and a severe phenotype. J Med Genet 30:482-486.
7. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 2001. Congenital heart defects in Kabuki syndrome. Am J Med Genet 100:269-274.
8. El Abd S, Wilson L, Howlin P, Patton MA, Wintgens AM, Wilson R. 1997. Agenesis of the corpus callosum in Turner syndrome with ring X. Dev Med Child Neurol 39:119-124.
9. Ewart-Toland A, Enns GM, Cox VA, Mohan GC, Rosenthal P, Golabi M. 1998. Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. Am J Med Genet 80:362-367.
10. Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD, editors. 1997. Perspectives in Pediatric Cardiology, Volume 5, Genetic and environmental risk factors of major cardiovascular malformations. The Baltimore-Washington Infant Study 1981-1989. Armonk NY: Futura, pp 313-315.
11. Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Corrias A, Chiabotto P. 1993. Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 47:423-425.
12. Fryns JP, Van den Berghe H, Schrander-Stumpel C. 1994. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4. Am J Med Genet 53:204-205.
13. Galan-Gomez E, Cardesa-Garcia JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martinez-Frias ML, Frias JL. 1995. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. Am J Med Genet 59:276-282.
14. Halal F, Gledhill R, Dudkiewicz A. 1989. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 33:376-381.
15. Hostoffer RW, Bay CA, Wagner K, Venglarcik J 3rd, Sahara H, Omair E, Clark HT. 1996. Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies. Clin Pediatr (Phila). 35:273-276.
16. Hughes HE, Davis SJ. 1994. Coarctation of the aorta in Kabuki syndrome. J Med Genet 70:512-514.
17. Ilyina H, Lurie I, Naumtchik I, Amoashy D, Stephanenko G, Fedotov V, Kostjuk A. 1995. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations. Am J Med Genet 56:127-131.
18. Jardine PE, Burvill-Holmes LC, Schutt WH, Lunt PW. 1993. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome. Clin Dysmorphol 2:269-273.
19. Kabuki Syndrome Network-Survey. 2001. Wysiwyg://3/http://www. kabukisyndrome.com/survey.html.
20. Kawame H, Hannibal MC, Hudgins L, Pagon RA. 1999. Phenotypic spectrum and management issues in Kabuki spectrum. J Pediatr 143:480-485.
21. Kokitsu-Nakata NM, Vendramini S, Guion-Almeida ML. 1999. Lower lip pits and anorectal anomalies in Kabuki syndrome. Am J Med Genet 86:282-284.
22. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. 2002. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32:285-289.
23. Kuroki Y, Suzuki Y, Chyo H, Hata A, 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 Peds 99:570-573.
24. Lin AE, Botto LD. 2003. Cardiovascular malformations (CVMs) in Kabuki syndrome: Practical, hierarchical and frequency-based analyses. Proc Greenwood Genet Ctr 22:73-74.
25. Lo IF, Cheung LY, Ng AY, Lam ST. 1998. Interstitial Dup(1p) with findings of Kabuki make-up syndrome. Am J Med Genet 78:55-57.
26. London Dysmorphology Database, Oxford Medical Databases. 2000. Great Britain: Oxford University Press.
27. Lynch SA, Ashcroft KA, Zwolinski S, Clarke C, Burn J. 1995. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. J Med Genet 32:227-230.
28. Makita Y, Yamada K, Miyamoto A, Okuno A. 1999. Niikawa N. 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 86:285-288.
29. Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T. 2001. Craniofacial and dental characteristics of Kabuki syndrome. Am J Med Genet 98:185-190.
30. McGaughran J, Aftimos S, Jefferies C, Winship I. 2001. Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. Clin Dysmorphol 10:257-262.
31. McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC. 1997. Ring chromosome X in a child with manifestations of Kabuki syndrome. Am J Med Genet 70:37-42.
32. Mhanni AA, Cross HG, Chudley AE. 1999. Kabuki syndrome: Description of dental findings in 8 patients. Clin Genet 56:154-157.
33. Milunsky JM, Huang XL. 2003. Unmasking Kabuki syndrome: Chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 64:509-516.
34. Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. 2002. Immune dysfunction in Kabuki syndrome (abstract). David W Smith 23rd Annual Workshop on Malformations and Morphogenesis.
35. Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K-i, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2004. On the Reported 8p22-p23.1 Duplication in Kabuki Make-up Syndrome (KMS) and its Absence in Patients With Typical KMS. Am J Med Gen (Published online).
36. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. 1981. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565-569.
37. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H. 1988. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 individuals. Am J Med Genet 31:565-589.
38. Office for National Statistics, 1998. Office for National Statistics, London England. Review of the Registrar General on births and patterns of family building in England and Wales, Series FM1 no. 27.
39. Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D, Porteous M, Santos H, Cordeiro I, Selicorni A, Silengo M, Tariverdian G. 1992. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 16 non-Japanese individuals. Clin Dysmorphol 1:63-77.
40. Pictures of Standardized Syndromes and Undiagnosed Malformations POSSUM (TM). 2000. The Murdoch Institute and the Telemedia Software Labs, Royal Children's Hospital, Melbourne, Australia.
41. Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, Konig R, Philip N, Rizzo R, Schrander J, Pfeiffer L. 1994. The Kabuki (Niikawa-Kuroki) syndrome: Further delineation of the phenotype in 29 non-Japanese individuals. Eur J Pediatr 153:438-445.
42. Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S. 2002. Kabuki syndrome: Report of six Thai children and further phenotypic and genetic delineation. Am J Med Genet 110:384-390.
43. Stankiewicz P, Thiele H, Giannakudis I, Schlicker M, Baldermann C, Kruger A, Dorr S, Starke H, Hansmann I. 2001. Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression. Am J Med Genet 102:286-292.
44. Toriello HV, Droste P. 2002. Nocturnal Lagophthalmos in Kabuki Syndrome: Results of a Parent Group Survey (abstract). David W Smith 23rd Annual Workshop on Malformations and Morphogenesis.
45. Tsukahara M, Kuroki Y, Imaizumi K, Miyazawa Y, Matsuo K. 1997. Dominant inheritance of Kabuki make-up syndrome. Am J Med Genet 73:19-23.
46. Upton S, Stadter CS, Landis P, Wulfsberg EA. 2003. Speech characteristics in the Kabuki syndrome. Am J Med Genet 116A:338-341.
47. Van Haelst MM, Brooks AS, Hoogeboom J, Wessels MW, Tibboel D, de Jongste JC, den Hollander JC, Bongers-Schokking JJ, Niermeijer MF, Willems PJ. 2000. Unexpected life-threatening complications in Kabuki syndrome. Am J Med Genet 94:170-173.
48. Watanabe T, Miyakawa M, Satoh M, Abe T, Oda Y. 1994. Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura. Acta Paediatr Jpn 36:727-729.
49. Wellesley DG, Slaney S. 1994. Kabuki make-up and Turner syndromes in the same individual. Clin Dysmorphol 3:297-300.
50. Wilson GN. 1998. Thirteen cases of Niikawa-Kuroki syndrome: Report and review with emphasis on medical complications and preventive management. Am J Med Genet 79:112-120.