Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Oculo-auriculo-vertebral spectrum (OMIM164210) is a phenotypically and probably also a genetically heterogeneous disorder, characterized by anomalies of the ear (mostly microtia), hemifacial microsomia, and defects of the vertebral column. Associated clinical findings include anomalies of the eye an...

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Bibliographic Details
Published in:	European journal of medical genetics Vol. 48; no. 4; pp. 397 - 411
Main Authors:	Tasse, Christiane, Böhringer, Stefan, Fischer, Sven, Lüdecke, Hermann-Josef, Albrecht, Beate, Horn, Denise, Janecke, Andreas, Kling, Rainer, König, Rainer, Lorenz, Birgit, Majewski, Frank, Maeyens, Elisabeth, Meinecke, Peter, Mitulla, Beate, Mohr, Christopher, Preischl, Monika, Umstadt, Horst, Kohlhase, Jürgen, Gillessen-Kaesbach, Gabriele, Wieczorek, Dagmar
Format:	Journal Article
Language:	English
Published:	Amsterdam Elsevier Masson SAS 01-10-2005 Elsevier
Subjects:	Abnormalities, Multiple - classification Abnormalities, Multiple - diagnosis Abnormalities, Multiple - physiopathology Adolescent Adult Biological and medical sciences Child Child, Preschool Diagnosis, Differential Diseases of the osteoarticular system Epibulbar dermoids Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Goldenhar syndrome Goldenhar Syndrome - classification Goldenhar Syndrome - diagnosis Goldenhar Syndrome - physiopathology Hemifacial microsomia Humans In Situ Hybridization, Fluorescence Infant Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Microtia Middle Aged Molecular and cellular biology Pedigree Vertebral anomalies Epibulbar dermoids Goldenhar syndrome Microtia Hemifacial microsomia Vertebral anomalies Human Evaluation Skin disease Diseases of the osteoarticular system Dysostosis Vertebra Case study Pinna Phenotype Epibulbar dermoid Aplasia Malformation Classification ENT disease Genetics Anomaly Face
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Summary:	Oculo-auriculo-vertebral spectrum (OMIM164210) is a phenotypically and probably also a genetically heterogeneous disorder, characterized by anomalies of the ear (mostly microtia), hemifacial microsomia, and defects of the vertebral column. Associated clinical findings include anomalies of the eye and brain, and developmental delay. We have evaluated the clinical data and photographs of 53 unrelated patients with OAVS, all presenting with either isolated microtia or preauricular tags in association with hemifacial microsomia as minimal diagnostic criteria; five had a positive family history for OAVS. Based on the main clinical findings and unilateral or bilateral involvement, we have developed a new classification system for OAVS, consisting of six subgroups. There is a statistically significant correlation between the subgroup and number of associated clinical findings, and a statistically significant difference regarding prognosis in uni- and bilaterally affected patients, suggesting that this classification is clinically relevant to the categorization of patients with OAVS. The newly developed scoring system (two points for each main clinical finding and one for each associated clinical finding) presented here, also aids prognosis, especially for delay of motor development and brain anomalies, and statistical analysis revealed significant clustering between different clinical findings of OAVS confirming the clinical impression previously published by several authors.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1769-7212 1878-0849
DOI:	10.1016/j.ejmg.2005.04.015