Growth charts for individuals with Smith-Lemli-Opitz syndrome
Open accessAbstract
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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The occipital frontal head circumference is proportionately the smallest measurement at birth and is 2 standard deviations below the typical population.
“the occipital frontal head circumference (OFC) is proportionately the smallest measurement at birth and is 2 standard deviations (SD) below the typical population [50, 51].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [51]
The Results (Growth Parameters; page unavailable) report that mean OFC in individuals with Smith-Lemli-Opitz syndrome is about 2 standard deviations below the curve for age-matched typically developing children. The paper does not state that OFC is proportionately the smallest measurement at birth; it reports a similar approximate deficit for weight, height, and BMI. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThe dataset available was at least as large as those used in other studies to create growth charts, and the larger datasets used were comparable to those used by the WHO Multicentre Growth Reference Study Group to construct the WHO Child Growth Standards.
“The dataset available was at least as large as those used in other studies to create growth charts [18], and the larger datasets used were comparable (in terms of the number of data points) to those used by the WHO Multicentre Growth Reference Study Group to construct the WHO Child Growth Standards [19].”
From Growth standard charts for monitoring bodyweight in dogs of different sizes (2017) · cites this paper as [18]
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References 30 · Cited by 20
Research works printed but not linked: 4
- Irons M Elias ER Abuelo D Bull MJ Greene CL Johnson VP Keppen L Schanen C Tint GS Salen G Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial Am J Med Genet 1997 68 311 314 9024565
- Kelley RI A new face for an old syndrome Am J Med Genet 1997 68 251 256 9024554
- Nwokoro NA Mulvihill JJ Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome Am J Med Genet 1997 68 315 321 9024566
- Stasinopoulos DM Rigby B Akantziliotou C Instructions on how to use the gamlss package in R 2008 Second Edition (http://gamlss.org/images/stories/papers/gamlss-manual.pdf, last accessed 11/29/201).
- Authors
- Lee, R. W. Y., McGready, J., Conley, S. K., Yanjanin, N. M., Nowaczyk, M. J. M., & Porter, F. D.
- Affiliations
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
- National Institutes of Health (US)
- McMaster University Medical Centre (CA)
- Corresponding author
- Lee, Ryan W.Y.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2012-05-21
- Volume
- 158A
- Issue
- 11
- Pages
- 2707-2713
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- PMC
- PMC3427420
- OpenAlex
- W2048847327
- Cited by
- 20
- References
- 30
- Citations by year
- 2025: 4 · 2024: 1 · 2023: 1 · 2021: 2 · 2020: 1 · 2019: 2 · 2018: 1 · 2017: 1 · 2015: 2 · 2014: 2 · 2013: 1 · 2012: 1
- FWCI
- 1.23
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- Centers for Disease Control and Prevention
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (ZIAHD008824)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- Smith-Lemli-Opitz syndrome, growth charts, growth restriction, reference growth standards, anthropometry, neurodevelopmental disorders, congenital malformations, developmental delay, linear growth
- MeSH terms
- Adolescent, Body Weights and Measures, Child, Child, Preschool, Female, Humans, Infant, Male, Maryland, Smith-Lemli-Opitz Syndrome, Growth Charts
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