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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Digilio, M. Cristina Calzolari, Flaminia Capolino, Rossella Toscano, Alessandra Sarkozy, Anna de Zorzi, Andrea Dallapiccola, Bruno Marino, Bruno |
| Description | Country affiliation: Italy Author Affiliation: Digilio MC ( Medical Genetics and Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net) |
| Abstract | 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 with normal chromosomes, ranging in age between 0.1 and 16.8 years. A twin pregnancy occurred in eight cases (dizygotic in six cases and monozygotic in two). CHDs were diagnosed in 28/87 (32%) patients, and classified into categories of postulated developmental mechanisms including 9 (32%) atrial and ventricular septal defects, 11 (39%) conotruncal defects, 4 (14%) targeted growth defects, two (7%) with situs and looping defects, one (4%) with a left-sided obstructive lesion and one (4%) with patent ductus arteriosus. As noted in other series, the most common individual CHDs were ventricular septal defect (six patients) and tetralogy of Fallot (TOF) (classic or with pulmonary atresia) (six patients). Comparing the frequencies of CHDs groups observed in the OAVS patients with the findings of the Emilia-Romagna Registry which ascertained CHDs prevalence in the general population, conotruncal defects, targeted growth defects, and heterotaxia were significantly associated with OAVS. |
| File Format | HTM / HTML |
| ISSN | 15524825 |
| Issue Number | 14 |
| Volume Number | 146A |
| e-ISSN | 15524833 |
| Journal | American Journal of Medical Genetics Part A |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2008-07-15 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Human Discipline Genetics Goldenhar Syndrome Complications Genetics Heart Defects, Congenital Adolescent Child Child, Preschool Diseases In Twins Female Pathology Heart Septal Defects, Ventricular Humans Infant Male Phenotype Pregnancy Tetralogy Of Fallot Twins, Dizygotic Twins, Monozygotic Journal Article |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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