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Long-term skeletal findings in Menkes disease

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Abstract

Skeletal findings in infants with Menkes disease, the most characteristic of which are metaphyseal spurs, long-bone fractures and wormian bones, have been widely reported. However, the changes in skeletal features over time are not well known. The long-term findings differ completely from those initially observed and consist of undertubulation and metaphyseal flaring, similar to the findings seen in some types of bone dysplasia. The initial and long-term radiological features in an 8-year-old boy with Menkes disease are illustrated.

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Acknowledgements

We thank Christine O’Hara for her help with the English version of the manuscript and Natalie Shur for her support in its preparation.

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Authors and Affiliations

  1. Department of Paediatric Radiology, Son Dureta Children’s Hospital, Palma de Mallorca, Spain

    Eva Amador

  2. Department of Paediatric Radiology, Vall d’Hebron Children’s Hospital, P. Vall d’Hebron, 119-129, 08035, Barcelona, Spain

    Ruth Domene, Cristian Fuentes, Juan-Carlos Carreño & Goya Enríquez

Authors
  1. Eva Amador
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  2. Ruth Domene
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  3. Cristian Fuentes
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  4. Juan-Carlos Carreño
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  5. Goya Enríquez
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Corresponding author

Correspondence to Juan-Carlos Carreño.

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Amador, E., Domene, R., Fuentes, C. et al. Long-term skeletal findings in Menkes disease. Pediatr Radiol 40, 1426–1429 (2010). https://doi.org/10.1007/s00247-010-1551-8

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  • DOI: https://doi.org/10.1007/s00247-010-1551-8

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