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Goldenhar syndrome and hemifacial microsomia: Observations on three patients

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Abstract

Three patients with oculoauriculovertebral dysplasia (Goldenhar) or hemifacial microsomia are presented. One had ocular, oral and auricular anomalies; another had vertebral malformations in addition to ocular and oro-auricular anomalies, and in a third only oro-auricular malformations were evident.

The oculoauriculovertebral malformation complex is regarded as a variety of bilateral hemifacial microsomia, with the vertebral defects, the rare occipital encephalocele and cleft of lip and palate presumably representing midline interaction between the 2 fields. Hemifacial microsomia is a causally non-specific developmental field complex (DFC) which usually occurs sporadically, but can also be seen as an autosomal dominant trait and as a component manifestation in the 18 trisomy syndrome.

Pathogenetic and therapeutic considerations are also discussed.

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Authors and Affiliations

  1. Department of Pediatrics, Municipial Hospital of Krefeld, Federal Republic of Germany

    Peter Thomas

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  1. Peter Thomas
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Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 65th birthday

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Thomas, P. Goldenhar syndrome and hemifacial microsomia: Observations on three patients. Eur J Pediatr 133, 287–292 (1980). https://doi.org/10.1007/BF00496092

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  • DOI: https://doi.org/10.1007/BF00496092

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