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Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

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Abstract

A great number of case reports on concordant and discordant twins with oculo-auriculo-vertebral spectrum (OAVS) suggest that there might be an association between reproductive abnormalities, twinning and OAVS. The etiology of OAVS is unknown, but may involve epigenetic dysregulation of the oocyte or early embryo. We collected data on fertility and pregnancy outcome of 72 parents of patients with sporadic OAVS. We also evaluated prospective follow-up data on 3.372 fetuses and children conceived by intracytoplasmatic sperm injection (ICSI). Parental age, duration of menstrual cycle and the incidence of spontaneous abortion was not different when compared to the German population. However, there is an excess of parents who have used assisted reproductive techniques (ART; retrospective P = 0.038, prospective P = 0.023) and an excess of twins among naturally conceived patients with OAVS (P = 0.0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet (Maandschr Kindergeneeskd 36:352–367, 1968).

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Acknowledgments

We would like to thank B. Albrecht, R. Bährens, C. Hammanns, D. Horn, A. Janecke, C. Klein, F. Kreutz, P. Meinecke, C. Mohr, M. Preischl, E.-C. Prott, R. Siegert, H. Umstadt, C. Wilmes for sending clinical data and/or blood samples. We thank H.-J. Lüdecke and S. Fischer for helpful discussion. In addition, we thank Bettina Stein for detailed patient data of her thesis and Melanie Trommler for performing zygosity testing. Furthermore, we would like to thank the patients and their parents who took part in this study and the parents’ support group for their friendly support. This study was supported by the Deutsche Forschungsgemeinschaft (DFG WI 1440/6-4).

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  1. Gabriele Gillessen-Kaesbach

    Present address: Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Germany

Authors and Affiliations

  1. Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany

    Dagmar Wieczorek, Stefan Boehringer, Gabriele Gillessen-Kaesbach & Bernhard Horsthemke

  2. Endokrinologikum Hamburg, Zentrum für Hormon- und Stoffwechselerkrankungen, Reproduktionsmedizin und Gynäkologische Endokrinologie, Hamburg, Germany

    Michael Ludwig

  3. Department of Epidemiology and Biostatistics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    Piet Hein Jongbloet

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  1. Dagmar Wieczorek
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Correspondence to Dagmar Wieczorek.

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Wieczorek, D., Ludwig, M., Boehringer, S. et al. Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. Hum Genet 121, 369–376 (2007). https://doi.org/10.1007/s00439-007-0336-0

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