Literature DB >> 18283388

A novel constellation of cardiac findings for Kabuki syndrome: hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage.

Raveen Shahdadpuri1, Sally Ann Lynch, H Murchan, Colin J McMahon.   

Abstract

This report describes the case of a child with Kabuki syndrome, hypoplastic left heart syndrome, and right-sided partial anomalous pulmonary venous drainage to the inferior vena cava. The child underwent successful Norwood and Glenn palliative procedures. At the age of 9 months, the genetic condition was recognized. This represents the first report describing this combination of findings for Kabuki syndrome.

Entities:  

Mesh:

Year:  2008        PMID: 18283388     DOI: 10.1007/s00246-008-9197-0

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


  11 in total

Review 1.  Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

Authors:  N Niikawa; Y Kuroki; T Kajii; N Matsuura; S Ishikiriyama; H Tonoki; N Ishikawa; Y Yamada; M Fujita; H Umemoto
Journal:  Am J Med Genet       Date:  1988-11

2.  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

3.  The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome.

Authors:  Colin J McMahon; William Reardon
Journal:  Cardiol Young       Date:  2006-02       Impact factor: 1.093

Review 4.  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

5.  Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.

Authors:  Constance Th R M Schrander-Stumpel; Liesbeth Spruyt; Leopold M G Curfs; Truus Defloor; Jaap J P Schrander
Journal:  Am J Med Genet A       Date:  2005-01-30       Impact factor: 2.802

6.  A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Authors:  Y Kuroki; Y Suzuki; H Chyo; A Hata; I Matsui
Journal:  J Pediatr       Date:  1981-10       Impact factor: 4.406

7.  Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

Authors:  N Niikawa; N Matsuura; Y Fukushima; T Ohsawa; T Kajii
Journal:  J Pediatr       Date:  1981-10       Impact factor: 4.406

8.  Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.

Authors:  S Ohdo; H Madokoro; T Sonoda; T Nishiguchi; K Kawaguchi; K Hayakawa
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

Review 9.  Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

Authors:  E Galán-Gómez; J J Cardesa-García; F M Campo-Sampedro; C Salamanca-Maesso; M L Martínez-Frías; J L Frías
Journal:  Am J Med Genet       Date:  1995-11-20

Review 10.  Kabuki make-up syndrome: a review.

Authors:  Naomichi Matsumoto; Norio Niikawa
Journal:  Am J Med Genet C Semin Med Genet       Date:  2003-02-15       Impact factor: 3.908

View more
  5 in total

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

Authors:  M Cristina Digilio; Anwar Baban; Bruno Marino; Bruno Dallapiccola
Journal:  Pediatr Cardiol       Date:  2010-10       Impact factor: 1.655

2.  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

3.  Hypoplastic left heart syndrome, cor triatriatum and partial anomalous pulmonary venous connection: Imaging of a very rare association.

Authors:  Muhammad Arif Khan; Abdulrahman Sulaiman Almoukirish; Karunamoy Das; Mohammed Omar Galal
Journal:  J Saudi Heart Assoc       Date:  2011-10-20

4.  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 5.  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

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.