Audiological and vestibular findings in the Kabuki syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 2, 2009, Pages 171-176

  Barozzi, S ^a,c   Di Berardino, F ^a,b   Atzeri, F ^c   Filipponi, E ^a   Cerutti, M ^c   Selicorni, A ^c   Cesarani, A ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SMaria Nascente Don Gnocchi ^*  (Italy)

^c FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Caloric tests; Hearing loss; Kabuki make up syndrome; Vestibular audiological

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUDIOLOGY; CALORIC VESTIBULAR TEST; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONDUCTION DEAFNESS; CONTROLLED STUDY; FEMALE; HUMAN; KABUKI MAKEUP SYNDROME; MALE; MIXED HEARING LOSS; OUTCOME ASSESSMENT; PRIORITY JOURNAL; SCHOOL CHILD; STABILOGRAPHY; VESTIBULAR EVOKED POTENTIAL; VESTIBULAR FUNCTION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CALORIC TESTS; CHILD; EVOKED POTENTIALS, AUDITORY; FACE; FEMALE; HEARING LOSS; HUMANS; MALE; SYNDROME; VESTIBULAR DISEASES; VESTIBULAR FUNCTION TESTS; YOUNG ADULT;

EID: 59849090962     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32610     Document Type: Article

References (23)

1. Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. 2005. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet Part A 132A: 265-272.
2. American Speech-Language-Hearing Association. 1978. Guidelines for pure-tone audiometry. ASHA 20:297-301.
3. Burke LW, Jones MC. 1995. Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate patients. Cleft Palate-Craniofacial J 32:77-84.
4. Clark JG. 1981. Uses and abuses of hearing loss classification. ASHA 23:493-500.
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. Fong CT, Wang M, Young EC, Hogan CA, Tallents RH, Kyrkanides S, Liptak GS, Sanger JA, Frisina RD. 2001. Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome. Otolaryngol Head Neck Surg 125:557-558.
7. Igawa HH, Nishizawa N, Sugihara T, Inuyama Y. 2000. Inner ear abnormalities in Kabuki make-up syndrome: Report of three cases. Am J Med Genet 92:87-89.
8. Jerger C. 1970. Clinical experience with impedance audiometry. Arch Otolaryngol 92:311-324.
9. 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.
10. 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.
11. Maas N, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel C, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR. 2007. The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet 44:562-569.
12. Matsumoto N, Niikawa N. 2003. Kabuki make-up syndrome: A review. Am J Med Genet Part C Semin Med Genet 117C:57-65.
13. 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.
14. 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.
15. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, Iwama Y, Kondoh I, Fukushima Y, Nako Y, Matsui I, Urakimi T, Aritaki S, Hara M, Sukuki Y, Chyo H, Sugio Y, Hasegawa T, Yamanaka T, Tsukino R, Yoshida A, Nomoto N, Kawahito S, Aihara R, Toyota S, Ieshima A, Funaki H, Ishitobi H, Ogura S, Furumae S, Yoshino M, Tsuji Y, Kondoh T, Matsumoto T, Abe K, Harada N, Miike T, Ohdo S, Naritomi K, Abushwereb AK, Braun OH, Schmid E. 1988. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. Am J Med Genet 31:565-589.
16. Peterson-Falzone SJ, Golabi M, Lalwani AK. 1997. Otolaryngologic manifestations of Kabuki syndrome. Int J Pediatr Otorhinolaryngol 38:227-236.
17. Sanlaville D, Verloes A. 2007. CHARGE syndrome: An update. Eur J Hum Genet 15:389-399 [Epub ahead of print].
18. Say B, McCutcheon L, Todd C, Hough JV. 1993. Kabuki make-up syndrome and hearing impairment. Clin Dysmorphol 2:68-70.
19. Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, Konig R, Philip N, Rizzo R, Schrander J, Pfeiffer L, Maat-Kievit A, van der Burgt I, van Essen T, Latta E, Hillig U, Verloes A, Journel H, Fryns JP. 1994. The Kabuki (Niikawa-Kuroki) syndrome: Further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 153:438-445.
20. Smith CG, Paradise JL, Sabo DL, Rockette HE, Kurs-Lasky M, Bernard BS, Colborn DK. 2006. Tympanometric findings and the probability of middle-ear effusion in 3686 infants and young children. Pediatrics 118:1-13.
21. Tekin M, Fitoz S, Arici S, Cetinkaya E, Incesulu A. 2006. Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: Evidence for a wide spectrum of inner ear abnormalities. Int J Pediatr Otorhinolaryngol 70:885-889 [Epub 2005 Dec 2].
22. 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.
23. Verloes A. 2005. Updated diagnostic criteria for CHARGE syndrome: A proposal. Am J Med Genet Part A 133A:306-308.