Elsevier

The Journal of Pediatrics

Volume 63, Issue 5, November 1963, Pages 991-999
The Journal of Pediatrics

Oculoauriculovertebral dysplasia1

https://doi.org/10.1016/S0022-3476(63)80233-4Get rights and content

Oculoauriculovertebral dysplasia is a syndrome consisting of (1) epibulbar dermoids and/or lipodermoids, (2) auricular appendices and pretragal blind-ended fistulas, and (3) vertebral anomalies. Analysis of over 40 cases has not revealed a hereditary basis. This syndrome has been considered to be a variant of mandibulofacial dysostosis by several authors but reasons are presented to suggest that this concept is not valid. The association of the syndrome with vascular anomalies merits further study.

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  • Cited by (309)

    • Genetics of craniofacial malformations

      2021, Seminars in Fetal and Neonatal Medicine
      Citation Excerpt :

      The oculo-auriculo-vertebral spectrum (OMIM 164210) is a rare craniofacial developmental disorder characterised by hemifacial microsomia, microtia, ocular, auricular and vertebral anomalies (see Fig. 2). The combination of clinical signs including epibulbar dermoids, auricular appendices, preauricular fistulas and vertebral anomalies was called Goldenhar syndrome until 1963 when Gorlin proposed the term ‘oculo-auriculo-vertebral dysplasia’ - which points out the main features of this syndrome - instead of the eponym [14]. Other terms used for this clinical spectrum are facio-auriculo-vertebral sequence, hemifacial microsomia and first and second branchial arch anomalies [15] - in regard to the supposed embryologic origin of the involved anomalies.

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    1

    This work was partially supported under the Program Grant in Oral Pathology, United States Public Health Service No. 07275207.

    *

    Address, Department of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis 14, Minn.

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