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Literature DB >> 1442880

Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

P J Morrison¹, H C Mulholland, B G Craig, N C Nevin.

Abstract

We describe the phenotypic characteristics of 25 individuals with oculo-auriculo-vertebral spectrum (OAVS) and its variants, seen in Northern Ireland between 1969-1989, with special reference to cardiovascular defects. We report the type and prevalence of cardiovascular findings and also estimate the minimum prevalence rate of OAVS to be 1 in 45,000.

Entities: Disease

Mesh：

Year: 1992 PMID： 1442880 DOI： 10.1002/ajmg.1320440407

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

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Cited

12 in total

1. GOLDEN-HAR SYNDROME.

Authors: V Mathur; R K Mishra
Journal: Med J Armed Forces India Date: 2017-06-10

2. Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.

Authors: Matthew L Speltz; Erin R Wallace; Brent R Collett; Carrie L Heike; Daniela V Luquetti; Martha M Werler
Journal: Plast Reconstr Surg Date: 2017-09 Impact factor: 4.730

3. Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics.

Authors: Marcy C Speer; David S Enterline; Lorraine Mehltretter; Preston Hammock; Judith Joseph; Margaret Dickerson; Richard G Ellenbogen; Thomas H Milhorat; Michael A Hauser; Timothy M George
Journal: J Genet Couns Date: 2003-08 Impact factor: 2.537

4. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

Authors: Ingeborg Barisic; Ljubica Odak; Maria Loane; Ester Garne; Diana Wellesley; Elisa Calzolari; Helen Dolk; Marie-Claude Addor; Larraitz Arriola; Jorieke Bergman; Sebastiano Bianca; Berenice Doray; Babak Khoshnood; Kari Klungsoyr; Bob McDonnell; Anna Pierini; Judith Rankin; Anke Rissmann; Catherine Rounding; Annette Queisser-Luft; Gioacchino Scarano; David Tucker
Journal: Eur J Hum Genet Date: 2014-01-08 Impact factor: 4.246

10. A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Authors: Chantal Farra; Khaled Yunis; Nadine Yazbeck; Marianne Majdalani; Lama Charafeddine; Rima Wakim; Johnny Awwad
Journal: Appl Clin Genet Date: 2011-07-06

Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

1. GOLDEN-HAR SYNDROME.

2. Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.

3. Review Article: Chiari Type I Malformation with or Without Syringomyelia: Prevalence and Genetics.

4. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

5. Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature.

6. Neurodevelopmental outcomes in children with hemifacial microsomia.

7. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.

8. Goldenhar Syndrome Associated with Extensive Arterial Malformations.

9. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association.

10. A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?