Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia

Maria Cristina Digilio, Bruno Marino, Antonio Ammirati, Umberto Borzaga, Aldo Giannotti, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


Oral-facial-skeletal (OFS) syndromes include short rib-polydactyly (SRP) and oral-facial-digital (OFD) syndromes. Congenital heart defect (CHD), mainly atrioventricular canal defect (AVCD), is a cardinal finding in the Ellis-van Creveld (EVC) syndrome, but it occurs only occasionally in other SRP and OFD syndromes. The cardiac characteristics of all patients with OFS syndromes evaluated at our hospital from January 1986 to April 1997 were analyzed and compared with published reports. Ten patients with EVC syndrome, one with McKusick-Kaufman syndrome, and one with OFD syndrome type II had AVCD. Eight patients (67%) had a common atrium, eight (67%) a persistent left superior vena cava (LSVC) draining into the left atrium because of an unroofed coronary sinus in five (42%), and left-sided obstructive lesions in three (25%). One patient with EVC syndrome had AVCD, common atrium, double outlet right ventricle, persistent LSVC associated with 'asplenia syndrome,' visceral heterotaxia, and right isomerism. The combination of CHDs found in the personal series of OFS syndromes suggests pathogenetic similarity with heterotaxia syndromes. Published results also corroborate the association between OFS syndromes and CHDs usually occurring in heterotaxia. Molecular studies could shed light on the genetic mechanisms implicated in the cause of the OFS and heterotaxia syndromes.

Original languageEnglish
Pages (from-to)350-356
Number of pages7
JournalAmerican Journal of Medical Genetics
Issue number4
Publication statusPublished - Jun 4 1999


  • Atrioventricular canal defect
  • Ellis-van Creveld syndrome
  • Heterotaxia
  • Oro-facio- digital syndrome
  • Short rib-polydactyly syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia'. Together they form a unique fingerprint.

Cite this