Growth charts for individuals with Smith–Lemli–Opitz syndrome§

Authors

  • Ryan W.Y. Lee,

    Corresponding author
    1. National Institutes of Health, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland
    2. The Kennedy Krieger Institute, Baltimore, Maryland
    3. The Johns Hopkins University School of Medicine, Baltimore, Maryland
    • The Kennedy Krieger Institute, 716 North Broadway Street, Baltimore, MD 21205.
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  • John McGready,

    1. Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland
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  • Sandra K. Conley,

    1. National Institutes of Health, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland
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  • Nicole M. Yanjanin,

    1. National Institutes of Health, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland
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  • Małgorzata J.M. Nowaczyk,

    1. McMaster University Medical Centre, Hamilton, Ontario, Canada
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  • Forbes D. Porter

    1. National Institutes of Health, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland
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  • Additional supporting information may be found in the online version of this article.

  • Conflicts of interest: None.

  • §

    How to Cite this Article: Lee RWY, McGready J, Conley SK, Yanjanin NM, Nowaczyk MJM, Porter FD. 2012. Growth charts for individuals with Smith–Lemli–Opitz syndrome. Am J Med Genet Part A 158A: 2707–2713.

Abstract

Smith–Lemli–Opitz syndrome (SLOS) is a rare multiple congenital anomaly neurodevelopmental syndrome of impaired cholesterol synthesis. Growth restriction and developmental delay are very common clinical manifestations of SLOS. The degree, etiology, and consequences of growth restriction in SLOS remain an area of limited knowledge to the scientific community. There have been no studies describing the growth parameters and providing reference growth charts for individuals with SLOS. Our longitudinal data from 78 patients between the ages of 0.1 and 16 years with SLOS show a growth restriction of about two standard deviations below the Centers for Disease Control (CDC) norms for age. This study represents comprehensive anthropometric data from the largest cohort available, and proposes growth charts for widespread use in the management and study of individuals with SLOS. © 2012 Wiley Periodicals, Inc.

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