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Growth charts for individuals with Smith-Lemli-Opitz syndrome

Ryan W Y Lee1, John McGready, Sandra K Conley

  • 1National Institutes of Health, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA. leer@kennedykrieger.org

American Journal of Medical Genetics. Part A
|May 23, 2012
PubMed

Insights

Smith-Lemli-Opitz syndrome (SLOS) causes significant growth restriction, approximately two standard deviations below normal. This study provides the first growth charts for SLOS patients, aiding clinical management.

Area of Science:

  • Genetics and Developmental Biology
  • Metabolic Disorders
  • Pediatric Endocrinology

Background:

  • Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder characterized by impaired cholesterol synthesis.
  • Growth restriction and neurodevelopmental issues are common in SLOS, but detailed growth parameters are poorly understood.
  • Existing literature lacks specific growth charts for monitoring SLOS patients.

Purpose of the Study:

  • To establish comprehensive anthropometric data for individuals with SLOS.
  • To develop reference growth charts for SLOS patients.
  • To improve the clinical management and research of SLOS.

Main Methods:

  • Longitudinal data collection from 78 SLOS patients aged 0.1 to 16 years.
  • Analysis of anthropometric measurements.
  • Comparison with Centers for Disease Control (CDC) growth norms.

Main Results:

  • SLOS patients exhibit significant growth restriction, averaging two standard deviations below CDC norms.
  • This study presents the largest available cohort data for SLOS growth parameters.
  • Novel growth charts for SLOS have been generated.

Conclusions:

  • The study provides crucial growth data and reference charts for SLOS.
  • These resources will aid in the diagnosis, monitoring, and management of growth in SLOS patients.
  • Further research into the etiology and consequences of SLOS growth restriction is warranted.

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