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Article

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

American journal of medical genetics. Part A - 15 Jul 2008

Digilio M Cristina, Calzolari Flaminia, Capolino Rossella, Toscano Alessandra, Sarkozy Anna, de Zorzi Andrea, Dallapiccola Bruno, Marino Bruno

Abstract excerpt

The oculo-auriculo-vertebral spectrum (OAVS) is a non-random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical vertebral malformations. Congenital heart defects (CHDs) have been reported in 5-58% of the patients. We analyze the frequency and anatomic features of CHD in a series of 87 patients with OAVS examined between January 1990 and February 2007...

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Identifiers

PMID: 18553555
DOI: 10.1002/ajmg.a.32407

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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