Hostname: page-component-78c5997874-fbnjt Total loading time: 0 Render date: 2024-11-19T10:49:19.819Z Has data issue: false hasContentIssue false

Oculo-Aurigulo-Vertebral Dysplasia (Goldenhar's Syndrome) Concordant In Identical Twins

Published online by Cambridge University Press:  01 August 2014

Ben Terhaar*
Affiliation:
Department of Pediatrics, University of Nijmegen, The Netherlands
*
Department of Pediatrics, University of Nijmegen, Nijmegen, The Netherlands

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The first case of MZ twins concordant for oculo-auriculo-vertebral dysplasia is reported. In the light of the data from the literature concerning the etiology of the syndrome, this observation does not allow an absolute conclusion but points towards the possible existence of a genetic form of this syndrome.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1972

References

REFERENCES

Berthelon, S., Cremer, N. (1968). Syndrome de Goldenhar avec malformations associées. Bull. Soc. Belge Ophtalmol., 149: 509513.Google Scholar
Bock, R.H. 1951. Ein Fall von epibulbärem Dermo-lipom mit Missbildung einer Gesichtshälfte. Diskordantes Vorkommen bei einem eineiigen Zwillingspaar. Ophthalmologica, 122: 8690.Google Scholar
Christiaens, L., Walbaum, R., Farriaux, J.P., Fontaine, G. 1966. A propos de deux cas de dysplasie oculo-auriculo-vertébrale. Pediatrie, 21: 935942.Google Scholar
Cordier, J., Stricker, M., Reny, A., Raspiller, A. 1970. Syndrome de Franceschetti-Goldenhar discordant chez deux jumelles monozygotes. Arch. Ophtalmol. (Paris), 30: 321328.Google Scholar
Goldenhar, M. 1952. Associations malformatives de l'œil et de l'oreille en particulier le syndrome dermoïde épibulbaire-appendice auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J. Genet. Hum., 1: 243282.Google Scholar
Gorlin, R.J., Jue, K.L., Jacobsen, U., Goldschmidt, E. 1963. Oculo auriculo vertebral dysplasia. J. Pediatr., 63: 991999.CrossRefGoogle Scholar
Gorlin, R.J., Pindborg, J.J. 1964. Syndromes of Head and Neck. McGraw-Hill, New-York, 419426.Google Scholar
Grabb, W.C. 1965. The first and second branchial arch syndrome. Plast. Reconstr. Surg., 36: 485508.CrossRefGoogle ScholarPubMed
Heimann, K. 1968. Beitrag zur Klinik des Goldenhar-syndroms. Klin. Monatsbl. Augenheilkd., 152: 686692.Google Scholar
Hollwich, F., Verbeck, B. 1969. Zur Dysplasia oculo-auricularis. Klin. Monatsbl. Augenheilkd., 154: 430443.Google Scholar
Jongbloet, P.H. 1968. Overripeness of the egg. Maand-schr. Kindergeneeskd., 36: 352366.Google Scholar
Krause, U. 1970. The syndrome of Goldenhar affecting two siblings. Acta Ophthalmol. (Kbh), 48: 494499.CrossRefGoogle ScholarPubMed
Narog, F. 1926. Summary. Zentralbl. Gesamte Ophthalmol., 15: 707.Google Scholar
Pashayan, H., Pinsky, L., Fraser, P.C. 1970. Hemifacial microsomia: oculo-auriculo-vertebral dysplasia. A patient with overlapping features. J. Med. Genet., 7: 185188.Google Scholar
Saraux, H., Grignon, J.L., Dhermy, P. 1963. A propos d'une observation familiale de syndrome de Franceschetti-Goldenhar. Bull. Soc. Ophtalmol. Fr., 63: 705707.Google Scholar
Summitt, R. 1969. Familial Goldenhar syndrome. Birth Defects: Original Article Series, 5: 106109.Google Scholar
Zarfl, M. 1935. Über ein lebendes missbildetes Kind nach ausgetragener Eileiterschwangerschaft. Z. Kinderheilkd., 57: 505515.CrossRefGoogle Scholar