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Genetic Syndromes

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The Pediatric Upper Extremity

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Abstract

Congenital upper extremity abnormalities are commonly associated with genetic syndromes; accurate identification and diagnosis of a syndrome may dramatically impact medical management for the child and recurrence risk for the family. In this chapter, commonly used genetic terminology and the utility of genetic testing versus referral to a clinical geneticist is reviewed. In addition, common genetic syndromes will be reviewed for specific types of limb abnormalities. After reading this chapter, the orthopedic surgeon should have a better understanding of when to recognize a possible genetic syndrome in a child with an upper extremity abnormality in addition to when to refer to genetics for testing, diagnosis, and counseling.

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Author information

Authors and Affiliations

  1. University of Maryland School of Medicine, 655 W. Baltimore Street, 21201, Baltimore, MD, USA

    Julie D. Kaplan & Carol L. Greene

Authors
  1. Julie D. Kaplan
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  2. Carol L. Greene
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Corresponding author

Correspondence to Julie D. Kaplan .

Editor information

Editors and Affiliations

  1. Dept. of Orthopedics, University of Maryland School of Medicine, Baltimore, Maryland, USA

    Joshua M. Abzug

  2. Shriners Hospitals for Children, Philadelphia, Pennsylvania, USA

    Scott H. Kozin

  3. Shriners Hospitals for Children, Philadelphia, Pennsylvania, USA

    Dan A. Zlotolow

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© 2015 Springer Science+Business Media New York

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Kaplan, J.D., Greene, C.L. (2015). Genetic Syndromes. In: Abzug, J., Kozin, S., Zlotolow, D. (eds) The Pediatric Upper Extremity. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8515-5_20

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  • DOI: https://doi.org/10.1007/978-1-4614-8515-5_20

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-8513-1

  • Online ISBN: 978-1-4614-8515-5

  • eBook Packages: MedicineReference Module Medicine

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