title: Growth charts for individuals with Smith-Lemli-Opitz syndrome.
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.
authors.affiliation: National Institutes of Health, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA. leer@kennedykrieger.org
authors.forename: Ryan W Y
authors.initials: RW
authors.lastname: Lee
authors.forename: John
authors.initials: J
authors.lastname: McGready
authors.forename: Sandra K
authors.initials: SK
authors.lastname: Conley
authors.forename: Nicole M
authors.initials: NM
authors.lastname: Yanjanin
authors.forename: Małgorzata J M
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: Forbes D
authors.initials: FD
authors.lastname: Porter
mesh_terms: D000293:Adolescent; D001837:Body Weights and Measures; D002648:Child; D002675:Child, Preschool; D005260:Female; D057238:Growth Charts; D006801:Humans; D007223:Infant; D008297:Male; D008396:Maryland; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis*