Growth charts for individuals with Smith-Lemli-Opitz syndrome

Ryan W.Y. Lee, John Mcgready, Sandra K. Conley, Nicole M. Yanjanin, Małgorzata J.M. Nowaczyk, Forbes D. Porter

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)2707-2713
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number11
StatePublished - Nov 2012


  • Anthropometry
  • Growth
  • Head circumference
  • Height
  • SLOS
  • Smith-Lemli-Opitz Syndrome
  • Weight

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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