Willem J M Gerver1, Alexandra Gkourogianni2, Andrew Dauber3,4, Ola Nilsson2,5, Jan M Wit6. 1. Department of Paediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands, w.gerver@maastrichtuniversity.nl. 2. Division of Paediatric Endocrinology and Centre for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden. 3. Division of Endocrinology, Children's National Hospital, Washington, District of Columbia, USA. 4. Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA. 5. Department of Paediatrics, School of Medical Sciences, Örebro University and University Hospital, Örebro, Sweden. 6. Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands.
Abstract
BACKGROUND/ OBJECTIVES: In the clinical assessment of a short or tall child, estimating body disproportion is useful to assess the likelihood of a primary growth disorder, e.g., skeletal dysplasia. Our objectives were (1) to use data from the Maastricht study on healthy children (2-17 years) to calculate relative arm span (AS) for height (H) to serve as age references for clinical purposes; (2) to assess its age and sex dependency; and (3) to investigate relative AS adjustment for age and sex in individuals with ACAN haploinsufficiency. METHODS: The Maastricht study data (2,595 Caucasian children, 52% boys, 48% girls) were re-analysed to produce reference tables and graphs for age and sex of AS - H and AS/H. Published information on AS/H in Europeans was used as reference data for adults. Relative AS from 33 patients with ACAN haploinsufficiency were plotted against reference data and expressed as standard deviation score (SDS) for age and sex. RESULTS: Mean AS - H from 2 to 17 years increased from -1.2 to +1.5 cm in boys and from -4.8 to +1.6 cm in girls. Mean AS/H increased from 0.9848 to 1.0155 in boys and from 0.9468 to 1.0028 in girls. Mean AS/H in patients with ACAN haploinsufficiency was approximately 1.0, 1.5 and 0.5 SDS in young children, adolescents and 20- to 50-year-olds, respectively, and normal thereafter. CONCLUSIONS: These reference charts can be used for 2- to 17-year-old children/adolescents. Carriers of ACAN haploinsufficiency have an elevated mean AS/H in childhood and adolescence and a slightly elevated ratio till 50 years.
BACKGROUND/ OBJECTIVES: In the clinical assessment of a short or tall child, estimating body disproportion is useful to assess the likelihood of a primary growth disorder, e.g., skeletal dysplasia. Our objectives were (1) to use data from the Maastricht study on healthy children (2-17 years) to calculate relative arm span (AS) for height (H) to serve as age references for clinical purposes; (2) to assess its age and sex dependency; and (3) to investigate relative AS adjustment for age and sex in individuals with ACANhaploinsufficiency. METHODS: The Maastricht study data (2,595 Caucasian children, 52% boys, 48% girls) were re-analysed to produce reference tables and graphs for age and sex of AS - H and AS/H. Published information on AS/H in Europeans was used as reference data for adults. Relative AS from 33 patients with ACANhaploinsufficiency were plotted against reference data and expressed as standard deviation score (SDS) for age and sex. RESULTS: Mean AS - H from 2 to 17 years increased from -1.2 to +1.5 cm in boys and from -4.8 to +1.6 cm in girls. Mean AS/H increased from 0.9848 to 1.0155 in boys and from 0.9468 to 1.0028 in girls. Mean AS/H in patients with ACANhaploinsufficiency was approximately 1.0, 1.5 and 0.5 SDS in young children, adolescents and 20- to 50-year-olds, respectively, and normal thereafter. CONCLUSIONS: These reference charts can be used for 2- to 17-year-old children/adolescents. Carriers of ACANhaploinsufficiency have an elevated mean AS/H in childhood and adolescence and a slightly elevated ratio till 50 years.
Authors: Birgit Weiss; Birgit Eberle; Ralph Roeth; Christiaan de Bruin; Julian C Lui; Nagarajan Paramasivam; Katrin Hinderhofer; Hermine A van Duyvenvoorde; Jeffrey Baron; Jan M Wit; Gudrun A Rappold Journal: Front Endocrinol (Lausanne) Date: 2021-06-04 Impact factor: 5.555