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    This article has been cited by the following publications. This list is generated based on data provided by CrossRef.

    Gonçalves, Luís F. Kusanovic, Juan Pedro Gotsch, Francesca Espinoza, Jimmy and Romero, Roberto 2008. Ultrasonography in Obstetrics and Gynecology.

    Marino, Bruno Digilio, M.Cristina and Toscano, Alessandra 2002. Common arterial trunk, DiGeorge syndrome and microdeletion 22q11. Progress in Pediatric Cardiology, Vol. 15, Issue. 1, p. 9.

    Marino, Bruno Digilio, Maria Cristina Toscano, Alessandra Anaclerio, Silvia Giannotti, Aldo Feltri, Cristiana De Ioris, Maria Antonietta Angioni, Adriano and Dallapiccola, Bruno 2001. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genetics in Medicine, Vol. 3, Issue. 1, p. 45.


Holt-Oram syndrome and multiple ventricular septal defects: an association suggesting a possible genetic marker?

  • Rolf G. Bennhagen (a1) and Samuel Menahem (a1)
  • DOI:
  • Published online: 01 August 2008

A family is described where the father has the many skeletal, but none of the cardiac abnormalities associated with the Holt-Oram syndrome. His two daughters have similar skeletal anomalies, but with identical cardiac lesions, as does another patient, raising the possibility of an associated genetic marker.

Corresponding author
Professor S Menahem, Department of Cardiology, Royal Children's Hospital. Flemington Road, Parkville, Victoria. 3052, Australia. Tel: 61-3-9345 5715 Fax: 61-3-9345 6001.
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This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.

1. M Holt , S Oram . Familial heart disease with skeletal malformations. Br Heart J 1960;22: 236.

3. CT Basson , GS Cowley , SD Solomon , B Weissman , AK Poznanski , TA Traill , JG Seidman , CE Seideman . The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med 1994;330:1627.

4. D Bonnet , A Pelet , L Legeai-Mallet , D Sidi , M Mathieu , P Parent , H Plauchu , F Serville , A Schinzel , J Weissenbach . A gene for Holt-Oram syndrome maps to the distal long arm chromosome 12. Nat Genet 1994;6: 405408.

5. JA Terret , R Newbury-Ecob , GS Cross , I Fenton , JA Raeburn , ID Young , JD Brook . Holt-Oram syndrome is genetically heterogenous disease with one locus mapping to human chromosome 12q. Nat Genet 1994;6: 401404.

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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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