Literature DB >> 18685799

Double aortic arch: an unreported anomaly with Kabuki syndrome.

Sergio Moral1, Flavio Zuccarino, Pablo Loma-Osorio.   

Abstract

Kabuki syndrome is a rare congenital disorder characterized by mental retardation, postnatal dwarfism, visceral anomalies, and peculiar facies (resembling the makeup of actors in Kabuki, traditional Japanese theater) initially described in Japan. Congenital heart and great vessel defects are the most frequent visceral anomalies found in children with Kabuki syndrome. Although many cardiovascular defects have been described, a double aortic arch has never been reported with Kabuki syndrome.

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Year:  2008        PMID: 18685799     DOI: 10.1007/s00246-008-9286-0

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN: 0172-0643            Impact factor:   1.655


  6 in total

Review 1.  Kabuki syndrome: a review study of three hundred patients.

Authors:  Marja W Wessels; Alice S Brooks; Jeannette Hoogeboom; Martinus F Niermeijer; Patrick J Willems
Journal:  Clin Dysmorphol       Date:  2002-04       Impact factor: 0.816

2.  A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome.

Authors:  J M Milunsky; T A Maher; G Zhao; X-L Huang; Z Wang; Y Zou
Journal:  Clin Genet       Date:  2008-03-11       Impact factor: 4.438

3.  Visualization of congenital thoracic vascular anomalies using multi-detector row computed tomography and two- and three-dimensional post-processing.

Authors:  Thomas Schertler; Simon Wildermuth; Ninoslav Teodorovic; Dieter Mayer; Borut Marincek; Thomas Boehm
Journal:  Eur J Radiol       Date:  2006-10-20       Impact factor: 3.528

4.  Phenotypic spectrum and management issues in Kabuki syndrome.

Authors:  H Kawame; M C Hannibal; L Hudgins; R A Pagon
Journal:  J Pediatr       Date:  1999-04       Impact factor: 4.406

Review 5.  Congenital heart defects in Kabuki syndrome.

Authors:  M C Digilio; B Marino; A Toscano; A Giannotti; B Dallapiccola
Journal:  Am J Med Genet       Date:  2001-05-15

Review 6.  Kabuki syndrome: a review.

Authors:  M P Adam; L Hudgins
Journal:  Clin Genet       Date:  2005-03       Impact factor: 4.438

  6 in total
  3 in total

1.  Hypoplastic left heart syndrome in patients with Kabuki syndrome.

Authors:  Grace C Kung; Philip M Chang; Mark S Sklansky; Linda M Randolph
Journal:  Pediatr Cardiol       Date:  2009-12-05       Impact factor: 1.655

2.  Carotid artery occlusion in Kabuki syndrome: Case report and literature review.

Authors:  Luana A M Gatto; Luis Henrique A Sousa; Gelson Luis Koppe; Zeferino Demartini
Journal:  Surg Neurol Int       Date:  2017-05-26

Review 3.  Kabuki Syndrome-Clinical Review with Molecular Aspects.

Authors:  Snir Boniel; Krystyna Szymańska; Robert Śmigiel; Krzysztof Szczałuba
Journal:  Genes (Basel)       Date:  2021-03-25       Impact factor: 4.096

  3 in total

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