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A variant or a “new” postaxial acrofacial dysostosis syndrome

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Abstract

In this paper, we report a boy with remarkable phenotype and noteworthy radiographic abnormalities. He presented with distinctive facies, mesomelic shortening and asymmetry of the extremities, symmetrical ulnar and fibular ray absence in the hands and feet, with unique hypoplastic/dysplastic radiographic abnormalities. His mental development was normal. We believe that he represents a previously unreported form of the postaxial acrofacial dysostosis syndrome.

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Acknowledgements

We are grateful and we offer thanks to our friend and colleague Prof. P. Beighton of Cape Town for his review and valuable comments on the manuscript.

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Authors and Affiliations

  1. Orthopaedic and Traumatology Division, Children’s University Hospital, Krakow, Poland

    Jerzy Sułko & Dariusz Kotulski

  2. Department of Medical Imaging, The New Children’s Hospital at Westmead, 2145, Sydney, Australia

    Kazimierz Kozlowski

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  1. Jerzy Sułko
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  2. Dariusz Kotulski
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  3. Kazimierz Kozlowski
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Correspondence to Kazimierz Kozlowski.

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Sułko, J., Kotulski, D. & Kozlowski, K. A variant or a “new” postaxial acrofacial dysostosis syndrome. Eur J Pediatr 167, 1385–1388 (2008). https://doi.org/10.1007/s00431-008-0678-1

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  • DOI: https://doi.org/10.1007/s00431-008-0678-1

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