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. 1987 Oct;24(10):616–620. doi: 10.1136/jmg.24.10.616

Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy.

P H Jongbloet 1
PMCID: PMC1050290  PMID: 3681908

Abstract

In contrast to the opinion of Yovich et al, who documented Goldenhar syndrome in one of possibly monozygous twin brothers conceived by in vitro fertilisation and embryo transfer, I suggest that ovopathy is the cause of this anomaly. The eight criteria which have to be met before a condition can be said to be caused by overripeness ovopathy are shown to be satisfied. My conclusion remains that, in general, sporadically occurring Goldenhar variants, as distinct from familial cases, should be considered to be just casualities in the broad 'continuum of reproductive wastage' seen in high risk conceptions, one of which is IVF. This concept increases our understanding of human variation not satisfactorily explained by Mendelian inheritance.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aleksic S., Budzilovich G., Greco M. A., McCarthy J., Reuben R., Margolis S., Epstein F., Feigin I., Pearson J. Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome). Childs Brain. 1984;11(5):285–297. doi: 10.1159/000120189. [DOI] [PubMed] [Google Scholar]
  2. Angell R. R., Templeton A. A., Aitken R. J. Chromosome studies in human in vitro fertilization. Hum Genet. 1986 Apr;72(4):333–339. doi: 10.1007/BF00290960. [DOI] [PubMed] [Google Scholar]
  3. Aouchiche M., Boyer R., Nouar A. Résultats du caryotype dans le syndrome de Goldenhar. Bull Mem Soc Fr Ophtalmol. 1972;85(0):57–69. [PubMed] [Google Scholar]
  4. Black F. O., Myers E. N., Rorke L. B. Aplasia of the first and second branchial arches. Arch Otolaryngol. 1973 Aug;98(2):124–128. doi: 10.1001/archotol.1973.00780020130014. [DOI] [PubMed] [Google Scholar]
  5. Blank E. A cardio-facial-skeletal syndrome. Am J Roentgenol Radium Ther Nucl Med. 1972 Nov;116(3):634–639. doi: 10.2214/ajr.116.3.634. [DOI] [PubMed] [Google Scholar]
  6. Burck U. Genetic aspects of hemifacial microsomia. Hum Genet. 1983;64(3):291–296. doi: 10.1007/BF00279415. [DOI] [PubMed] [Google Scholar]
  7. Channing C. P., Tanabe K., Jones G. S., Jones H. W., Jr, Lebech P. Inhibin activity of preovulatory follicles of gonadotropin-treated and untreated women. Fertil Steril. 1984 Aug;42(2):243–248. [PubMed] [Google Scholar]
  8. Cohen M. M., Jr Variability versus "incidental findings" in the first and second branchial arch syndrome: unilateral variants with anophthalmia. Birth Defects Orig Artic Ser. 1971 Jun;7(7):103–108. [PubMed] [Google Scholar]
  9. Couly G., Le Lievre-Ayer C. Malformations latéro-faciales (neurocristopathies maxillo-mandibulaires) associées à des anomalies du tronc cérébral et des nerfs crâniens. Rev Stomatol Chir Maxillofac. 1983;84(5):254–263. [PubMed] [Google Scholar]
  10. Duncan P. A., Shapiro L. R., Stangel J. J., Klein R. M., Addonizio J. C. The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr. 1979 Sep;95(3):399–402. doi: 10.1016/s0022-3476(79)80514-4. [DOI] [PubMed] [Google Scholar]
  11. Friedman S., Saraclar M. Letter: The high frequency of congenital heart disease in oculo-auriculo-vertebral dysplasia (Goldenhar's syndrome). J Pediatr. 1974 Dec;85(6):873–874. doi: 10.1016/s0022-3476(74)80368-9. [DOI] [PubMed] [Google Scholar]
  12. Gratz E. S., Pollack M. A., Zimmerman R. D. Congenital facial palsy and ipsilateral deafness: association with maternal diabetes mellitus. Int J Pediatr Otorhinolaryngol. 1981 Dec;3(4):335–341. doi: 10.1016/0165-5876(81)90058-6. [DOI] [PubMed] [Google Scholar]
  13. Hillier S. G., Siddiquey A. K., Winston R. M. Fertilization in vitro of cumulus-enclosed mouse oocytes: effect of timing of the ovulatory HCG injection. Int J Fertil. 1985;30(2):34–38. [PubMed] [Google Scholar]
  14. Hodes M. E., Gleiser S., DeRosa G. P., Yune H. Y., Girod D. A., Weaver D. D., Palmer C. G. Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. J Craniofac Genet Dev Biol. 1981;1(1):49–55. [PubMed] [Google Scholar]
  15. Johnson J. P., Fineman R. M. Branchial arch malformations in infants of diabetic mothers: two case reports and a review. Am J Med Genet. 1982 Oct;13(2):125–130. doi: 10.1002/ajmg.1320130204. [DOI] [PubMed] [Google Scholar]
  16. Jongbloet P. H. Birth intervals in oral cleft families. Clin Genet. 1984 Nov;26(5):488–492. doi: 10.1111/j.1399-0004.1984.tb01095.x. [DOI] [PubMed] [Google Scholar]
  17. Jongbloet P. H. Diagnostic criteria for overripeness ovopathy. Maandschr Kindergeneeskd. 1971 Oct;38(8):251–280. [PubMed] [Google Scholar]
  18. Jongbloet P. H. Monozygotic twinning, structural defects, and syndromes "of obscure etiology". J Pediatr. 1980 Nov;97(5):868–869. doi: 10.1016/s0022-3476(80)80293-9. [DOI] [PubMed] [Google Scholar]
  19. Jongbloet P. H. The ageing gamete in relation to birth control failures and Down syndrome. Eur J Pediatr. 1985 Nov;144(4):343–347. doi: 10.1007/BF00441775. [DOI] [PubMed] [Google Scholar]
  20. Karmody C. S., Feingold M. Autosomal dominant first and second branchial arch syndrome. A new inherited syndrome? Birth Defects Orig Artic Ser. 1974;10(7):31–40. [PubMed] [Google Scholar]
  21. Melnick M., Hodes M. E., Nance W. E., Yune H., Sweeney A. Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. Clin Genet. 1978 May;13(5):425–442. doi: 10.1111/j.1399-0004.1978.tb04142.x. [DOI] [PubMed] [Google Scholar]
  22. Mikamo K. Intrafollicular overripeness and teratologic development. Cytogenetics. 1968;7(3):212–233. doi: 10.1159/000129985. [DOI] [PubMed] [Google Scholar]
  23. Miller M. T. Association of Duane retraction syndrome with craniofacial malformations. J Craniofac Genet Dev Biol Suppl. 1985;1:273–282. [PubMed] [Google Scholar]
  24. Papp A., Gardo S., Dolhay B., Ruzicska G. Y. Letter: Indirect effect of sex hormones on the fetus. J Pediatr. 1976 Mar;88(3):524–524. doi: 10.1016/s0022-3476(76)80291-0. [DOI] [PubMed] [Google Scholar]
  25. Papp Z., Gardó S., Walawska J. Probably monozygotic twins with discordance for Goldenhar syndrome. Clin Genet. 1974;5(2):86–90. doi: 10.1111/j.1399-0004.1974.tb01666.x. [DOI] [PubMed] [Google Scholar]
  26. Regenbogen L., Godel V., Goya V., Goodman R. M. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet. 1982 Mar;21(3):161–167. doi: 10.1111/j.1399-0004.1982.tb00957.x. [DOI] [PubMed] [Google Scholar]
  27. Rollnick B. R., Kaye C. I. Hemifacial microsomia and variants: pedigree data. Am J Med Genet. 1983 Jun;15(2):233–253. doi: 10.1002/ajmg.1320150207. [DOI] [PubMed] [Google Scholar]
  28. Say B., Miller G. C., Barber N., Grogg S. Association of birth defects and immunodeficiency. J Pediatr. 1979 May;94(5):849–850. doi: 10.1016/s0022-3476(79)80186-9. [DOI] [PubMed] [Google Scholar]
  29. Schinzel A. A., Smith D. W., Miller J. R. Monozygotic twinning and structural defects. J Pediatr. 1979 Dec;95(6):921–930. doi: 10.1016/s0022-3476(79)80278-4. [DOI] [PubMed] [Google Scholar]
  30. Schroeter C., Jährig K., Weinke I. Ein neuer Fall von Pentasomie X. Helv Paediatr Acta. 1980 Jul;35(3):233–241. [PubMed] [Google Scholar]
  31. Schwartzenberg T., Vancea P. P., Scânteie V., Covic M. Problèmes de diagnostic et de traitement dans un cas clinique de dysplasie oculo-auriculaire associée à la dysostose mandibulo-faciale (syndrome de Franceschetti-Goldenhar). Ophthalmologica. 1978;177(1):1–12. doi: 10.1159/000308730. [DOI] [PubMed] [Google Scholar]
  32. Shokeir M. H. The Goldenhar syndrome: a natural history. Birth Defects Orig Artic Ser. 1977;13(3C):67–83. [PubMed] [Google Scholar]
  33. Siebert J. R., Graham J. M., Jr, MacDonald C. Pathologic features of the CHARGE association: support for involvement of the neural crest. Teratology. 1985 Jun;31(3):331–336. doi: 10.1002/tera.1420310303. [DOI] [PubMed] [Google Scholar]
  34. Spielmann H., Krüger C., Stauber M., Vogel R. Abnormal chromosome behavior in human oocytes which remained unfertilized during human in vitro fertilization. J In Vitro Fert Embryo Transf. 1985 Sep;2(3):138–142. doi: 10.1007/BF01131500. [DOI] [PubMed] [Google Scholar]
  35. Stoll C., Roth M. P., Dott B., Bigel P. Discordance for skeletal and cardiac defect in monozygotic twins. Acta Genet Med Gemellol (Roma) 1984;33(3):501–504. doi: 10.1017/s0001566000005961. [DOI] [PubMed] [Google Scholar]
  36. Troya M., Bomsel-Helmreich O., Bertrand P., Papiernik E., Spira A. Relationship between the characteristics of the menstrual cycle and congenital malformations in the human. Early Hum Dev. 1985 Sep;11(3-4):307–315. doi: 10.1016/0378-3782(85)90084-2. [DOI] [PubMed] [Google Scholar]
  37. WITSCHI E. Overripeness of the egg as a cause of twinning and teratogenesis: a review. Cancer Res. 1952 Nov;12(11):763–786. [PubMed] [Google Scholar]
  38. Winer-Muram H. T., Muram D., Wilroy R. S., Cupp C. The concurrence of facioauriculovertebral spectrum and the Rokitansky syndrome. Am J Obstet Gynecol. 1984 Jul 1;149(5):569–570. doi: 10.1016/0002-9378(84)90037-1. [DOI] [PubMed] [Google Scholar]
  39. Wynne-Davies R. Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica. J Med Genet. 1975 Sep;12(3):280–288. doi: 10.1136/jmg.12.3.280. [DOI] [PMC free article] [PubMed] [Google Scholar]
  40. Yovich J. L., Stanger J. D., Grauaug A. A., Lunay G. G., Hollingsworth P., Mulcahy M. T. Fetal abnormality (Goldenhar syndrome) occurring in one of triplet infants derived from in vitro fertilization with possible monozygotic twinning. J In Vitro Fert Embryo Transf. 1985 Mar;2(1):27–32. doi: 10.1007/BF01130829. [DOI] [PubMed] [Google Scholar]

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