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Neonatal skeletal dysplasias

  • Advances in Fetal and Neonatal Imaging
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Abstract

Skeletal dysplasias are a large diverse group of disorders characterized by abnormal bone and cartilage growth. Approximately one-quarter of them are considered lethal in the perinatal period. This paper will review the components of the skeletal survey, the primary imaging tool for diagnosing dysplasias postnatally, emphasizing the use of an organized approach and appropriate descriptive terminology. Several illustrative cases of lethal and nonlethal dysplasias will be shown, with additional discussion of commonly associated genetic mutations and classification systems.

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Acknowledgement

The authors would like to thank Corey Wall for his assistance in the preparation of images for this paper.

Disclaimer

The supplement this article is part of is not sponsored by the industry. Dr. Parnell and Dr. Phillips have no financial interest, investigational or off-label uses to disclose.

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Authors and Affiliations

  1. Department of Radiology, R-5417, Seattle Children’s Hospital, 4800 Sand Point Way NE, Seattle, WA, 98105, USA

    Shawn E. Parnell & Grace S. Phillips

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  1. Shawn E. Parnell
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  2. Grace S. Phillips
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Correspondence to Shawn E. Parnell.

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Parnell, S.E., Phillips, G.S. Neonatal skeletal dysplasias. Pediatr Radiol 42 (Suppl 1), 150–157 (2012). https://doi.org/10.1007/s00247-011-2176-2

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  • DOI: https://doi.org/10.1007/s00247-011-2176-2

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