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Distinctive skeletal dysplasia in Cockayne syndrome

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Abstract

Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearence. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvment of the spine.

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Authors and Affiliations

  1. Servizio di Genetica Clinica Infantile, Istituto di Discipline Pediatriche, University of Torino, Piazza Polonia 94, I-10126, Torino, Italy

    M. Cirillo Silengo,  P. Franceschini, R. Bianco & M. Biagioli

  2. Clinica Pediatrica C, Centro di Auxopatologia Infantile, University of Torino, Piazza Polonia 94, I-10126, Torino, Italy

    L. Pastorin, N. Vista, A. Baldassar & L. Benso

Authors
  1. M. Cirillo Silengo
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  2. P. Franceschini
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  3. R. Bianco
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  4. M. Biagioli
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  5. L. Pastorin
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  6. N. Vista
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  7. A. Baldassar
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  8. L. Benso
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Cirillo Silengo, M., Franceschini, P., Bianco, R. et al. Distinctive skeletal dysplasia in Cockayne syndrome. Pediatr Radiol 16, 264–266 (1986). https://doi.org/10.1007/BF02456305

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  • DOI: https://doi.org/10.1007/BF02456305

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