Literature DB >> 1376967

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?

C Stoll1, J R Kieny, B Dott, Y Alembik, S Finck.   

Abstract

We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.

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Year:  1992        PMID: 1376967     DOI: 10.1002/ajmg.1320420413

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  A case of severe Pierre Robin sequence with failure to thrive and tachycardia resolved after redo-fundoplication and hiatoplasty.

Authors:  Konrad Reinshagen; Jörn Schellscheidt; Klaus-Peter Zimmer
Journal:  Eur J Pediatr       Date:  2005-07-26       Impact factor: 3.183

2.  Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

Authors:  Linda P Jakobsen; Reinhard Ullmann; Steen B Christensen; Karl Erik Jensen; Kirsten Mølsted; Karen F Henriksen; Claus Hansen; Mary A Knudsen; Lars A Larsen; Niels Tommerup; Zeynep Tümer
Journal:  J Med Genet       Date:  2007-06       Impact factor: 6.318

  2 in total

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