Literature DB >> 26085772

Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome.

Rohit S Loomba1, Gabrielle Geddes2.   

Abstract

Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or patent ductus arteriosus, although more complex congenital lesions have been described. We present the first reported case of tricuspid atresia and pulmonary atresia with hypoplasia of the right ventricle in the setting of Rubenstein-Taybi syndrome.

Entities:  

Keywords:  Hypoplastic right ventricle; Rubinstein-Taybi syndrome; tricuspid atresia

Year:  2015        PMID: 26085772      PMCID: PMC4453189          DOI: 10.4103/0974-2069.154151

Source DB:  PubMed          Journal:  Ann Pediatr Cardiol        ISSN: 0974-5149


  10 in total

1.  Rubinstein-Taybi syndrome and hypoplastic left heart.

Authors:  David Hanauer; Michael Argilla; Robert Wallerstein
Journal:  Am J Med Genet       Date:  2002-09-15

2.  Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

Authors:  J H RUBINSTEIN; H TAYBI
Journal:  Am J Dis Child       Date:  1963-06

3.  Rubinstein-Taybi syndrome in The Netherlands.

Authors:  R C Hennekam; M J Van Den Boogaard; B J Sibbles; H G Van Spijker
Journal:  Am J Med Genet Suppl       Date:  1990

Review 4.  Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.

Authors:  J H Rubinstein
Journal:  Am J Med Genet Suppl       Date:  1990

5.  Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.

Authors:  J P Lopez-Atalaya; C Gervasini; F Mottadelli; S Spena; M Piccione; G Scarano; A Selicorni; A Barco; L Larizza
Journal:  J Med Genet       Date:  2011-10-07       Impact factor: 6.318

6.  FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Authors:  O Bartsch; A Wagner; G K Hinkel; P Krebs; M Stumm; B Schmalenberger; S Böhm; S Balci; F Majewski
Journal:  Eur J Hum Genet       Date:  1999 Oct-Nov       Impact factor: 4.246

7.  Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Authors:  M H Breuning; H G Dauwerse; G Fugazza; J J Saris; L Spruit; H Wijnen; N Tommerup; C B van der Hagen; K Imaizumi; Y Kuroki; M J van den Boogaard; J M de Pater; E C Mariman; B C Hamel; H Himmelbauer; A M Frischauf; R Stallings; G C Beverstock; G J van Ommen; R C Hennekam
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

Review 8.  Rubinstein-Taybi syndrome medical guidelines.

Authors:  Susan Wiley; Susan Swayne; Jack H Rubinstein; Nancy E Lanphear; Cathy A Stevens
Journal:  Am J Med Genet A       Date:  2003-06-01       Impact factor: 2.802

9.  Cardiac abnormalities in the Rubinstein-Taybi syndrome.

Authors:  C A Stevens; M G Bhakta
Journal:  Am J Med Genet       Date:  1995-11-20

10.  Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

Authors:  F Petrij; R H Giles; H G Dauwerse; J J Saris; R C Hennekam; M Masuno; N Tommerup; G J van Ommen; R H Goodman; D J Peters
Journal:  Nature       Date:  1995-07-27       Impact factor: 49.962

  10 in total
  2 in total

1.  Anaesthetic Management of Children with Rubinstein-Taybi Syndrome.

Authors:  Mahmut Alp Karahan; Hüseyin Sert; Zeliha Ayhan; Bülend Ayhan
Journal:  Turk J Anaesthesiol Reanim       Date:  2016-06-01

Review 2.  Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Authors:  Julien Van Gils; Frederique Magdinier; Patricia Fergelot; Didier Lacombe
Journal:  Genes (Basel)       Date:  2021-06-24       Impact factor: 4.096

  2 in total

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