Speech characteristics in the Kabuki syndrome

American Journal of Medical Genetics

Volumn 116 A, Issue 4, 2003, Pages 338-341

  Upton, Sheila ^a   Stadter, Carmella S ^a   Landis, Pat ^b   Wulfsberg, Eric A ^a  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b Kernan Hospital   (United States)

Author keywords

Cleft palate; Kabuki syndrome; Niikawa Kuroki syndrome; Speech characteristics

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; DISEASE ASSOCIATION; FEMALE; HUMAN; KABUKI MAKEUP SYNDROME; LOUDNESS; MALE; PITCH; PRIORITY JOURNAL; SPEECH ANALYSIS; SPEECH ARTICULATION; SPEECH DISORDER; SPEECH INTELLIGIBILITY; ADOLESCENT; CLEFT LIP; CLEFT PALATE; GENETICS; LANGUAGE DISABILITY; PATHOPHYSIOLOGY; PHYSIOLOGY; PSYCHOLOGICAL ASPECT; SYNDROME;

ADOLESCENT; CHILD; CLEFT LIP; CLEFT PALATE; FEMALE; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; SPEECH ARTICULATION TESTS; SPEECH DISORDERS; SPEECH INTELLIGIBILITY; SYNDROME;

EID: 0041825420     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10039     Document Type: Article

References (11)

1. Burke LW, Jones MC. 1995. Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate patients. Cleft Palate Craniofac J 32:77-84.
2. Ikegawa S, Sakaguchi R, Kimizuka M, Yanagisako Y, Tokimura F. 1993. Recurrent dislocation of the patella in Kabuki make-up syndrome. J Pediatr Orthop 13:265-267.
3. 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.
4. Kawame H, Hannibal MC, Hudgins L, Pagon RA. 1999. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 134:480-485.
5. Koutras A, Fisher S. 1982. Niikawa-Kuroki syndrome: A new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding ears. J Pediatr 101:417-419.
6. 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.
7. 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.
8. 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, Urakami T, Aritaki S, Hara M, Suzuki 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 K, Ogura S, Furumae T, 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.
9. Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesback G, Tinschert S, Konig R, Philip N, Rizzo R, Matt-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.
10. 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.
11. Wilson GN. 1998. Thirteen cases of Niikawa-Kuroki syndrome. Am J Med Genet 79:112-120.