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Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails

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Abstract

Introduction

There have been 23 previously published cases of patients with syndromic craniosynostosis and human tails. In many of these, the tail was composed of prominent coccygeal and sacral vertebrae, curved in a retroverted instead of in the normal anterograde fashion. This has been termed sacrococcygeal eversion. In those cases in which genetic testing results are reported, there were fibroblast growth factor receptor 2 (FGFR2) mutations.

Methods

We present three patients with Pfeiffer syndrome and sacrococcygeal eversion. Two had genetic testing and both had FGFR2 mutations, one of them a novel mutation in patients with syndromic craniosynostosis and sacrococcygeal eversion. We also briefly review the literature on craniosynostosis and human tails.

Results

All but one reported patient has had either Pfeiffer, Crouzon, or Beare-Stevenson syndrome. Most patients, including ours, have had severe manifestations of their syndrome. Although the pathogenesis of sacrococcygeal eversion is unknown, a similarly posteriorly curved tail bud develops in normal human embryos during the second month of gestation.

Conclusions

Perhaps increased FGFR2 activation during this embryonic period leads to abnormal differentiation or regression of the tail bud and, in turn, sacrococcygeal eversion, in certain patients with severe syndromic craniosynostosis.

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Acknowledgments

The authors wish to acknowledge Ash Brones BS for her assistance in editing and formatting the manuscript.

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Authors and Affiliations

  1. Neurosurgery, School of Medicine, University of Colorado, Children’s Hospital Colorado, 13123 E. 16th Ave, Aurora, CO, 80045, USA

    C. Corbett Wilkinson & Ken R. Winston

  2. Genetics, School of Medicine, University of Colorado, Children’s Hospital Colorado, 13123 E. 16th Ave, Aurora, CO, 80045, USA

    David K. Manchester

  3. Plastic Surgery, School of Medicine, University of Colorado, Children’s Hospital Colorado, 13123 E. 16th Ave, Aurora, CO, 80045, USA

    Lawrence L. Ketch

  4. Neurosurgery, Children’s National Medical Center, 111 Michigan Ave., N.W, Washington, DC, 20010, USA

    Robert F. Keating

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  1. C. Corbett Wilkinson
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  2. David K. Manchester
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  3. Robert F. Keating
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  4. Lawrence L. Ketch
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  5. Ken R. Winston
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Correspondence to C. Corbett Wilkinson.

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Wilkinson, C.C., Manchester, D.K., Keating, R.F. et al. Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails. Childs Nerv Syst 28, 1221–1226 (2012). https://doi.org/10.1007/s00381-012-1813-x

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  • DOI: https://doi.org/10.1007/s00381-012-1813-x

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