Coloboma and Other Ophthalmologic Anomalies in Kabuki Syndrome: Distinction from Charge Association

American Journal of Medical Genetics

Volumn 123 A, Issue 3, 2003, Pages 249-252

  Ming, Jeffrey E ^a,b   Russell, Karen L ^a   Bason, Lynn ^a   McDonald McGinn, Donna M ^a   Zackai, Elaine H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Eye abnormalities; Kabuki syndrome; Multiple congenital abnormalities

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COLOBOMA; CONGENITAL HEART DISEASE; DIAGNOSTIC ERROR; DIAGNOSTIC IMAGING; DISEASE ACTIVITY; DISEASE ASSOCIATION; DISEASE COURSE; EAR DISEASE; EVALUATION; EYE MALFORMATION; FACIES; FOLLOW UP; HUMAN; INCIDENCE; KABUKI MAKEUP SYNDROME; KARYOTYPING; KIDNEY DISEASE; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETINA COLOBOMA; SYNDROME CHARGE;

EID: 0344896684     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20277     Document Type: Article

References (34)

1. Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F. 2001. Two patients with Kabuki syndrome presenting with endocrine problems. J Pediatr Endocrinol Metab 14:215-220.
2. Bermejo E, Martinez-Frias ML. 1998. Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 75:497-504.
3. Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM. 1998. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr 37:159-173.
4. Cetinkaya E, Misirlioglu ED, Vidinlisan S, Baydar Z, Ozhan ZR. 2001. Hypospadias in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. J Pediatr Endocrinol Metab 14:803-805.
5. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 2001. Congenital heart defects in Kabuki syndrome. Am J Med Genet 100:269-274.
6. Frediani T, Lucarelli S, Bruni L. 2001. Niikawa-Kuroki (Kabuki) syndrome in two siblings. Minerva Pediatr 53:43-48.
7. Gabrielli O, Carloni I, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A. 2000. Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency. Minerva Pediatr 52:47-53.
8. 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.
9. Graham JM. 2001. A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. Am J Med Genet 99:120-123.
10. Handa Y, Maeda K, Toida M, Kitajima T, Ishimaru J, Nagai A, Oka N. 1991. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate. J Craniomaxillofac Surg 19:99-101.
11. 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.
12. Iwama Y, Sugiyama S, Kaiga K, Eguchi M, Furukawa T. 1987. Kabuki makeup syndrome associated with megaureter. Acta Paediatr Jpn 29:182-185.
13. Kawame H, Hannibal MC, Hudgins L, Pagon RA. 1999. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 134:480-485.
14. Kluijt I, van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M, Bitoun P. 2000. Kabuki syndrome-report of six cases and review of the literature with emphasis on ocular features. Ophthalmic Genet 21:51-61.
15. 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.
16. 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 Pediatr 99:570-573.
17. Kurosawa K, Kawame H, Ochiai Y, Nakashima M, Tohma T, Ohashi H. 2002. Patellar dislocation in Kabuki syndrome. Am J Med Genet 108:160-163.
18. 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.
19. McGaughran JM, Donnai D, Clayton-Smith J. 2000. Biliary atresia in Kabuki syndrome. Am J Med Genet 91:157-158.
20. 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.
21. Milunsky JM, Cheney SM. 2001. Kabuki syndrome in a Haitian patient. Am J Med Genet 100:172-174.
22. Morrison D, FitzPatrick D, Hanson I, Williamson K, van Heyningen V, Fleck B, Jones I, Chalmers J, Campbell H. 2002. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology. J Med Genet 39:16-22.
23. 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.
24. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al. 1988. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet 31:565-589.
25. Pagon RA, Graham JM, Zonana J, Yong SL. 1981. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99:223-227.
26. Peterson-Falzone SJ, Golabi M, Lalwani AK. 1997. Otolaryngologic manifestations of Kabuki syndrome. Int J Pediatr Otorhinolaryngol 38:227-236.
27. Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D, et al. 1992. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 16 non-Japanese cases. Clin Dysmorphol 1:63-77.
28. Roccella M. 1999. Niikawa-Kuroki syndrome. Minerva Pediatr 51:271-278.
29. Selicorni A, Colombo C, Bonato S, Milani D, Giunta AM, Bedeschi MF. 2001. Biliary atresia and Kabuki syndrome: Another case with long-term follow-up. Am J Med Genet 100:251.
30. Stoll C, Alembik Y, Dott B, Roth MP. 1997. Congenital eye malformations in 212,479 consecutive births. Ann Genet 40:122-128.
31. Toutain A, Plee Y, Ployet MJ, Benoit S, Perrot A, Sembely C, Barthez MA, Moraine C. 1997. Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature. Genet Couns 8:99-105.
32. Tutar HE, Ocal G, Ince E, Cin S. 1994. Premature thelarche in Kabuki make-up syndrome. Acta Paediatr Jpn 36:104-106.
33. Van Lierde KM, Van Borsel J, Van Cauwenberge P. 2000. Speech patterns in Kabuki make-up syndrome: A case report. J Commun Disord 33:447-461.
34. 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.