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Occipital projections in the skeletal dysplasias

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Abstract

Occipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis. This led us to search the International Skeletal Dysplasia Registry for occipital projections, and we found them in four other syndromes in which they had not been reported. Thus occipital spurs are a non-diagnostic feature that can be found in at least ten distinct disorders as well as a normal variant.

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Acknowledgements

The authors thank MaryAnn Priore and Gina Rose, coordinators of the International Skeletal Dysplasia Registry, for assistance with data collection. Supported in part by an NIH Program Project Grant (HD 22657).

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Authors and Affiliations

  1. International Skeletal Dysplasia Registry, Department of Pediatrics and the Medical Genetics-Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA, USA

    Yuji Takamine, Ralph S. Lachman, Fiona M. Field & David L. Rimoin

  2. Departments of Pediatrics, Medicine and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

    David L. Rimoin

  3. Department of Radiological Sciences and Pediatrics, David Geffen School of Medicine, Los Angeles, CA, USA

    Ralph S. Lachman

Authors
  1. Yuji Takamine
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  2. Ralph S. Lachman
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  3. Fiona M. Field
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  4. David L. Rimoin
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Correspondence to Fiona M. Field.

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Takamine, Y., Lachman, R.S., Field, F.M. et al. Occipital projections in the skeletal dysplasias. Pediatr Radiol 34, 530–534 (2004). https://doi.org/10.1007/s00247-004-1191-y

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  • DOI: https://doi.org/10.1007/s00247-004-1191-y

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