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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References
Arlt, F. von: Klinische Darstellung der Krankheiten des Auges. Wien 1881
Badtke, G., Degenhardt, K.-H., Lund, O.-E.: Tierexperimenteller Beitrag zur Ätiologie und Phänogenese kraniofacialer Dysplasien. Z. Anat. Entw.-Gesch. 121, 71–102 (1959)
Baum, J. L., Feingold, M.: Ocular aspects of Goldenhar's syndrome. Am.J. Ophthalmol. 75, 250–257 (1973)
Berkman, M. D., Feingold, M.: Oculoauriculovertebral dysplasia (Goldenhar's syndrome). Oral Surg. 25, 408–417 (1968)
Bock, R. H.: Ein Fall von epibulbärem Dermolipom mit Mißbildung einer Gesichtshälfte. Diskordantes Vorkommen bei einem eineiigen Zwillingspaar. Ophthalmologica 122, 86–90 (1951)
Bowen, D. I., Collum, L. T. M., Rees, D. O.: Clinical aspects of oculo-auriculo-vertebral dysplasia. Br. J. Ophthalmol. 55, 145–154 (1971)
Clifford, E.: Psychosocial aspects of orofacial anomalies: Speculations in search of data. In: ASHA Reports. Orofacial anomalies: Clinical and research implications. 1973
Feingold, M.: Oculo-auriculo-vertebral dysplasia/Hemifacial microsomia. In: Birth Defects Compendium (D. Bergsma, ed.), 2nd ed., pp. 735 and 457. 1979
Fleischer-Peters, A.: Das Goldenhar-Syndrom unter besonderer Berücksichtigung der Kiefermißbildungen. Dtsch. Zahnärztl. Z 24, 545–551 (1969)
Goldenhar, M.: Associations malformatives de l'œil et de l'oreille, en particulier le syndrome dermoïde épibulbaire —appendices auriculaires — fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J. Génét. Hum. 1, 243–282 (1952)
Gorlin, R. J., Jue, K. L., Jacobsen, U., Goldschmidt, E.: Oculoauriculovertebral dysplasia. J. Pediat. 63, 991–999 (1963)
Gorlin, R. J., Pindborg, J. J.: Syndromes of the head and neck. New York: McGraw-Hill Book Company 1964
Gorlin, R. J., Pindborg, J. J., Cohen, M. M.: Syndromes of the head and neck, 2nd ed. New York: McGraw-Hill Book Company 1976
Gorlin, R. J., Červenka, J., Pruzansky, S.: Facial clefting and its syndromes. Birth Defects: Orig. Art. Ser. VII/7, 3–49 (1971)
Greenwood, R. D., Rosenthal, A., Sommer, A., Wolff, G., Craenen, J.: Cardiovascular malformations in oculoauri-culovertebral dysplasia (Goldenhar syndrome). J. Pediat. 85, 816–818 (1974)
Heimann, K.: Beitrag zur Klinik des Goldenhar-Syndromes. Klin. Monatsbl. Augenheilk. 152, 686–692 (1968)
Herrmann, J., Opitz, J. M.: A dominantly inherited first arch syndrome. Birth Defects: Orig. Art. Ser. V/2, 110–112 (1969)
Hollwich, F., Verbeck, B.: Zur Dysplasia oculo-auricularis (Franceschetti-Goldenhar-Syndrom). Klin. Monatsbl. Augenheilk. 154, 430–443 (1969)
Jezequel, Ch., Coutel, Y.: Deux observations de syndrome de Goldenhar. Quest. Méd. 24, 667–673 (1971)
Krause, U.: The syndrome of Goldenhar affecting two siblings. Acta Ophthalmol. (Kbh.) 48, 494–499 (1970)
Mann, I.: Developmental abnormalities of the eye, 2nd ed. London: British Medical Association 1957
McKenzie, J.: The first arch syndrome. Arch. Dis. Child. 33, 477–486 (1958)
Mounoud, R.-L., Klein, D., Weber, F.: A propos d'un cas de syndrome de Goldenhar: Intoxication aigue a la vitamine A chez la mère pendant la grossesse. J. Génét. Hum. 23, 135–154 (1975)
Opitz, J. M., Faith, G. C.: Visceral anomalies in an infant with the Goldenhar syndrome. Birth Defects: Orig. Art. Ser. V/2, 104–105 (1969)
Pashayan, H., Pinsky, L., Fraser, F. C.: Hemifacial microsomia — Oculo-auriculo-vertebral dysplasia. J. Med. Genet. 7, 185–188 (1970)
Poswillo, D.: The pathogenesis of the first and second branchial arch syndrome. Oral Surg. 35, 302–328 (1973)
Rochels, R., Reuss, M.: Das Goldenhar-Syndrom. Fortschr. Med. 96, 1469–1472 (1978)
Saraux, H., Grignon, J. L., Dhermy, P.: A propos d'une observation familiale de syndrome des Franceschetti-Goldenhar. Bull. Soc. Ophthalmol. Fr. 63, 705–707 (1963)
Sitzmann, F. C., Schuch, P.: Das Goldenhar-Syndrom. Z. Kinderheilk. 93, 40–45 (1965)
Spranger, J. W.: Developmental terms—some proposals/First report of an international working group. Eur. J. Pediatr. 131, 1–7 (1979)
Stewart, R. E.: Craniofacial malformations—Clinical and genetic considerations. Pediat. Clin. North Am. 25, 485–513 (1978)
Sugar, H. S.: The oculoariculovertebral dysplasia syndrome of Goldenhar. Am. J. Ophthalmol. 62, 678–682 (1966)
Sugar, H. S.: An unusual example of the oculoauriculovertebral dysplasia syndrome of Goldenhar. J. Pediat. Ophthalmol. 4, 9–12 (1967)
Summitt, R. L.: Familial Goldenhar syndrome. Birth Defects: Orig. Art. Ser. V/2, 106–109 (1969)
Terhar, B.: Oculo-auriculo-vertebral dysplasia (Goldenhar's syndrome) concordant in identical twins. Acta Genet. Med. Gemell. 21, 116–124 (1971)
Tost, M.: Beitrag zur Dysplasia oculo-auriculo-vertebralis. Klin. Monatsbl. Augenheilk. 154, 183–193 (1969)
Wiedemann, H.-R., Grosse, F.-R., Dibbern, H.: Das charakte-ristische Syndrom — Blickdiagnose von Syndromen. Stuttgart-New York: F. K. Schattauer Verlag 1976
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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