Kabuki Syndrome with Multiple Associated Surgical Anomalies (Cleft Palate, Anorectal Anomaly and Diaphragmatic Hernia): Case Report and Literature Review-Reference-Cited by-同舟云学术

Kabuki Syndrome with Multiple Associated Surgical Anomalies (Cleft Palate, Anorectal Anomaly and Diaphragmatic Hernia): Case Report and Literature Review

Published:2015 Issue:2 Volume:6 Page:303-308
ISSN:2185-1336
Container-title:Journal of St. Marianna University
language:en
Short-container-title:J St. Marianna Univ

Author:

Furuta Shigeyuki¹,Sato Hideaki¹,Tsuji Shiho¹,Manabe Shutaro¹,Masaki Hiroshi²,Kitagawa Hiroaki³

Affiliation:

1. Department of Pediatric Surgery, St. Marianna University Yokohama- City Seibu Hospital, Yokohama, Japan

2. Department of Neonatology, St. Marianna University Yokohama- City Seibu Hospital, Yokohama, Japan

3. Department of Pediatric Surgery, St. Marianna University School of Medicine, Kawasaki, Japan

Publisher

Marianna University Society of Medical Science

Link

https://www.jstage.jst.go.jp/article/stmarieng/6/2/6_303/_pdf

Reference26 articles.

1. 1) Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. 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. 2) Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. 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. 3) Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42: 790–793.

4. 4) Matsumoto N, and Niikawa N. Kabuki make-up syndrome: A review. Am J Med Genet C Semin Med Genet 2003; 117C: 57–65.

5. 5) Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al. Kabuki make-up (Nikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988; 31: 565–589.