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Congenital limb reduction defects in twins

  • Medical Genetics
  • Published:
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Abstract

The study relates to congenital limb reduction defects (CLRDs) in twins from a 10-year-period (1975–1984) and is based on cases from the Hungarian Congenital Abnormality Registry. In order to clarify the respective contributions of genetic and environmental factors to CLRDs and the role of causal factors in common with twinning, the occurrence of CLRDs in twins was studied. In eight multiple CLRD twin cases (i.e. those with additional non-limb malformations), one monozygous concordant and one semi-concordant twin pair was found, indicating that genetic factors play a limited role in pathogenesis. There is no correlation between twinning and isolated CLRDs. Frequency of CLRDs in general was no higher in twins than in all births, although there was a non-significantly higher twinning rate in multiple CLRD cases. Twins with CLRDs were more often male, especially in multiple cases.

Conclusion

There may be a relationship between twinning and congenital abnormalities, but twinning is not a major factor contributing to CLRD cases.

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Abbreviations

CA :

congenital abnormalities

CLRD :

congenital limb reduction defects

DZ :

dizygous

HCAR :

Hungarian Congenital Abnormality Registry

MZ :

monozygous

TTT :

terminal transverse type

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Authors and Affiliations

  1. Department of Human Genetics and Teratology, WHO Collaborating Centre for the Community of Hereditary Diseases, National Institute of Hygiene, Budapest, Hungary

    Julia Métneki & Andrew E. Czeizel

  2. Department of Human Genetics, University of Manitoba, Winnipeg, Manitoba, Canada

    Jane A. Evans

Authors
  1. Julia Métneki
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  2. Andrew E. Czeizel
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  3. Jane A. Evans
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Métneki, J., Czeizel, A.E. & Evans, J.A. Congenital limb reduction defects in twins. Eur J Pediatr 155, 483–490 (1996). https://doi.org/10.1007/BF01955186

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  • DOI: https://doi.org/10.1007/BF01955186

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