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Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation

A case report of a novel COL10A1 mutation

  • Case report
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Journal of Orthopaedic Science

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Acknowledgments

The authors wish to thank the European Skeletal Dysplasia Network (ESDN) for diagnostic support and Dr. G. Wildhardt (Bioscientia, Center for Human Genetics, Ingelheim, Germany) for providing the COL10A1 mutation screening.

Conflict of interest

The authors wish to state that there are no conflicts of interest, that they have full control of all primary data and that they agree to allow the journal to review their data if requested.

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Authors and Affiliations

  1. Orthopaedic Department, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany

    Julia V. Woelfle, H. Reichel & M. Nelitz

  2. Division for Biochemistry of Joint and Connective Tissue Diseases, Orthopaedic Department, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany

    R. E. Brenner

  3. Center for Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany

    B. Zabel

Authors
  1. Julia V. Woelfle
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  2. R. E. Brenner
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  3. B. Zabel
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  4. H. Reichel
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  5. M. Nelitz
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Correspondence to Julia V. Woelfle.

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Woelfle, J.V., Brenner, R.E., Zabel, B. et al. Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation. J Orthop Sci 16, 245–249 (2011). https://doi.org/10.1007/s00776-011-0021-y

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  • DOI: https://doi.org/10.1007/s00776-011-0021-y

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