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J Med Genet. 1987 October; 24(10): 616–620.
PMCID: PMC1050290

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


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

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