Growth charts for 22q11 deletion syndrome

Authors

  • Daniel C. Tarquinio,

    1. Department of Pediatric Neurology, Miami Children's Hospital, Miami, Florida
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  • Marilyn C. Jones,

    1. Division of Dysmorphology/Genetics, Rady Children's Hospital, San Diego, California
    2. Department of Pediatrics, University of California, San Diego, San Diego, California
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  • Kenneth Lyons Jones,

    1. Department of Pediatrics, University of California, San Diego, San Diego, California
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  • Lynne M. Bird

    Corresponding author
    1. Division of Dysmorphology/Genetics, Rady Children's Hospital, San Diego, California
    2. Department of Pediatrics, University of California, San Diego, San Diego, California
    • Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, 3020 Children's Way #5031, San Diego, CA 92123.
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  • How to Cite this Article: Tarquinio DC, Jones MC, Jones KL, Bird LM. 2012. Growth charts for 22q11 deletion syndrome. Am J Med Genet Part A 158A: 2672–2681.

Abstract

The purpose of this work was to create growth curves specific to the 22q11.2 deletion syndrome. Growth parameters on 188 patients (86 females, 102 males) followed by a group of three dysmorphologists were collected by retrospective chart review. Growth charts for body mass, length/height, and head circumference were generated using a semi-parametric model with goodness-of-fit tests. The resulting charts show that between 25 and 50% of children with 22q11.2 deletion syndrome fall below the 2nd centile for the normal population for all growth parameters. Establishing norms of growth for 22q11.2 deletion syndrome allows the clinician to identify and investigate those children who deviate substantially from the growth profile of this condition. © 2012 Wiley Periodicals, Inc.

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