Literature DB >> 29424094

Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth.

Mariana Del Pino1, Rosario Ramos Mejía1, Virginia Fano1.   

Abstract

Achondroplasia is the most common form of inherited disproportionate short stature. We report leg length, sitting height, and body proportion curves for achondroplasia. Seven centile format of sitting height, leg length, sitting height/leg length ratio, sitting height/height ratio, and head circumference/height ratio were estimated by the LMS method. The Q-test was applied to assess the goodness of fit. For comparison, centiles of sitting height and leg length were graphed using Argentine national growth references for achondroplasia and non-achondroplasia populations. The sample consisted of 342 children with achondroplasia (171 males, 171 females) aged 0-18 years. The median (interquartile range) number of measurements per child was 6 (3, 12) for sitting height and 8 (3, 13) for head circumference. Median leg length increased from 14 cm at age 1 week to 44 and 40 cm (males and females, respectively) in achondroplasia adolescents which is 3.5 cm shorter than non-achondroplasia children at age 1 week and, 38 cm shorter at adolescence. Median sitting height increased from 34 cm at birth to 86 and 81 in adolescents' boys and girls respectively, only 5 cm shorter than non-achondroplasia children. Sitting height/leg length decreased from 2.61 at birth to approximately 1.90 at adolescent. Median head circumference/height ratio decreased from 0.79 at birth to 0.46 at 18 years in both sexes. Growth of lower limbs is affected early in life and becomes more noticeable throughout childhood. The disharmonic growth between the less affected trunk and the severely affected limbs determine body disproportion in achondroplasia.
© 2018 Wiley Periodicals, Inc.

Entities:  

Keywords:  FGFR3; achondroplasia; body proportions; charts; growth curves; leg length; references; sitting height

Mesh:

Year:  2018        PMID: 29424094     DOI: 10.1002/ajmg.a.38633

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  8 in total

Review 1.  Disease-specific complications and multidisciplinary interventions in achondroplasia.

Authors:  Hiroshi Kitoh; Masaki Matsushita; Kenichi Mishima; Yasunari Kamiya; Kenta Sawamura
Journal:  J Bone Miner Metab       Date:  2022-01-14       Impact factor: 2.626

Review 2.  International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Authors:  Ravi Savarirayan; Penny Ireland; Melita Irving; Dominic Thompson; Inês Alves; Wagner A R Baratela; James Betts; Michael B Bober; Silvio Boero; Jenna Briddell; Jeffrey Campbell; Philippe M Campeau; Patricia Carl-Innig; Moira S Cheung; Martyn Cobourne; Valérie Cormier-Daire; Muriel Deladure-Molla; Mariana Del Pino; Heather Elphick; Virginia Fano; Brigitte Fauroux; Jonathan Gibbins; Mari L Groves; Lars Hagenäs; Therese Hannon; Julie Hoover-Fong; Morrys Kaisermann; Antonio Leiva-Gea; Juan Llerena; William Mackenzie; Kenneth Martin; Fabio Mazzoleni; Sharon McDonnell; Maria Costanza Meazzini; Josef Milerad; Klaus Mohnike; Geert R Mortier; Amaka Offiah; Keiichi Ozono; John A Phillips; Steven Powell; Yosha Prasad; Cathleen Raggio; Pablo Rosselli; Judith Rossiter; Angelo Selicorni; Marco Sessa; Mary Theroux; Matthew Thomas; Laura Trespedi; David Tunkel; Colin Wallis; Michael Wright; Natsuo Yasui; Svein Otto Fredwall
Journal:  Nat Rev Endocrinol       Date:  2021-11-26       Impact factor: 47.564

Review 3.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

Review 4.  Obesity in achondroplasia patients: from evidence to medical monitoring.

Authors:  Celine Saint-Laurent; Laura Garde-Etayo; Elvire Gouze
Journal:  Orphanet J Rare Dis       Date:  2019-11-14       Impact factor: 4.123

Review 5.  Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.

Authors:  Virginia Fano; Chong A Kim; Pablo Rosselli; Regina El Dib; Renée Shediac; Tatiana Magalhães; Debora Mesojedovas; Juan Llerena
Journal:  Orphanet J Rare Dis       Date:  2022-01-04       Impact factor: 4.123

6.  Key measurement concepts and appropriate clinical outcome assessments in pediatric achondroplasia clinical trials.

Authors:  Natalie V J Aldhouse; Helen Kitchen; Chloe Johnson; Chris Marshall; Hannah Pegram; Sheryl Pease; Sam Collins; Christine L Baker; Katherine Beaverson; Chandler Crews; Jill Massey; Kathleen W Wyrwich
Journal:  Orphanet J Rare Dis       Date:  2022-05-07       Impact factor: 4.303

7.  Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.

Authors:  Juan Llerena; Chong Ae Kim; Virginia Fano; Pablo Rosselli; Paulo Ferrez Collett-Solberg; Paula Frassinetti Vasconcelos de Medeiros; Mariana Del Pino; Débora Bertola; Charles Marques Lourenço; Denise Pontes Cavalcanti; Têmis Maria Félix; Antonio Rosa-Bellas; Norma Teresa Rossi; Fanny Cortes; Flávia Abreu; Nicolette Cavalcanti; Maria Cecilia Hervias Ruz; Wagner Baratela
Journal:  BMC Pediatr       Date:  2022-08-19       Impact factor: 2.567

8.  Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.

Authors:  Julie E Hoover-Fong; Adekemi Y Alade; S Shahrukh Hashmi; Jacqueline T Hecht; Janet M Legare; Mary Ellen Little; Chengxin Liu; John McGready; Peggy Modaff; Richard M Pauli; David F Rodriguez-Buritica; Kerry J Schulze; Maria Elena Serna; Cory J Smid; Michael B Bober
Journal:  Genet Med       Date:  2021-05-18       Impact factor: 8.822

  8 in total

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