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Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
Hoover-Fong, Julie E; Schulze, Kerry J; Alade, Adekemi Y; Bober, Michael B; Gough, Ethan; Hashmi, S Shahrukh; Hecht, Jacqueline T; Legare, Janet M; Little, Mary Ellen; Modaff, Peggy; Pauli, Richard M; Rodriguez-Buritica, David F; Serna, Maria E; Smid, Cory; Liu, Chengxin; McGready, John.
Afiliação
  • Hoover-Fong JE; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA. jhoover2@jhmi.edu.
  • Schulze KJ; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA.
  • Alade AY; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
  • Bober MB; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA.
  • Gough E; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
  • Hashmi SS; Nemours/AI duPont Hospital for Children, Wilmington, DE, USA.
  • Hecht JT; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA.
  • Legare JM; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
  • Little ME; McGovern Medical School, University of Texas Health, Houston, TX, USA.
  • Modaff P; McGovern Medical School, University of Texas Health, Houston, TX, USA.
  • Pauli RM; School of Dentistry, University of Texas Health, Houston, TX, USA.
  • Rodriguez-Buritica DF; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
  • Serna ME; Nemours/AI duPont Hospital for Children, Wilmington, DE, USA.
  • Smid C; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
  • Liu C; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
  • McGready J; McGovern Medical School, University of Texas Health, Houston, TX, USA.
Orphanet J Rare Dis ; 16(1): 522, 2021 12 23.
Article em En | MEDLINE | ID: mdl-34949201
BACKGROUND: Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalized spondylometaphyseal dysplasia which manifest as spinal cord compression, sleep disordered breathing, delayed motor skill acquisition and genu varus with musculoskeletal pain. To better understand the interactions and health outcomes of these potential complications, we embarked on a multi-center, natural history study entitled CLARITY (achondroplasia natural history study). One of the CLARITY objectives was to develop growth curves (length/height, weight, head circumference, weight-for-height) and corresponding reference tables of mean and standard deviations at 1 month increments from birth through 18 years for clinical use and research for achondroplasia patients. METHODS: All available retrospective anthropometry data including length/height, weight and head circumference from achondroplasia patients were collected at 4 US skeletal dysplasia centers (Johns Hopkins University, AI DuPont Hospital for Children, McGovern Medical School University of Texas Health, University of Wisconsin School of Medicine and Public Health). Weight-for-age values beyond 3 SD above the mean were excluded from the weight-for-height and weight-for-age curves to create a stricter tool for weight assessment in this population. RESULTS: Over 37,000 length/height, weight and head circumference measures from 1374 patients with achondroplasia from birth through 75 years of age were compiled in a REDCap database. Stature and weight data from birth through 18 years of age and head circumference from birth through 5 years of age were utilized to construct new length/height-for-age, weight-for-age, head circumference-for-age and weight-for-height curves. CONCLUSION: Achondroplasia-specific growth curves are essential for clinical care of growing infants and children with this condition. In an effort to provide prescriptive, rather than purely descriptive, references for weight in this population, extreme weight values were omitted from the weight-for-age and weight-for-height curves. This well-phenotyped cohort may be studied with other global achondroplasia populations (e.g. Europe, Argentina, Australia, Japan) to gain further insight into environmental or ethnic influences on growth.
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Acondroplasia / Estatura Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Child / Humans / Infant Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Acondroplasia / Estatura Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Child / Humans / Infant Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos