Literature DB >> 21460402

Clinical management of achondroplasia.

M J Wright1, M D Irving.   

Abstract

Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rarer but more severe problems such as cervicomedullary compression. Knowledge of these complications, appropriate surveillance strategies and treatment options is essential for the paediatrician. The authors review the published literature in this area and provide a system based approach to the management of the healthcare needs of the child with achondroplasia.

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Mesh:

Year:  2011        PMID: 21460402     DOI: 10.1136/adc.2010.189092

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  27 in total

1.  Central Hypoventilation Syndromes.

Authors:  Christopher Cielo; Carole L Marcus
Journal:  Sleep Med Clin       Date:  2014-03-01

2.  A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic.

Authors:  Martin Pesl; Hana Verescakova; Linda Skutkova; Jana Strenkova; Pavel Krejci
Journal:  Orphanet J Rare Dis       Date:  2022-06-16       Impact factor: 4.303

3.  Treatment Goals for Achondroplasia: A Qualitative Study with Parents and Adults.

Authors:  Sarah A McGraw; Jeff C Henne; James Nutter; Adelpha Abrahamson Larkin; Er Chen
Journal:  Adv Ther       Date:  2022-06-08       Impact factor: 4.070

Review 4.  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 5.  Achondroplasia: a comprehensive clinical review.

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

6.  Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement.

Authors:  Thangamadhan Bosemani; Gunes Orman; Benedikt Hergan; Kathryn A Carson; Thierry A G M Huisman; Andrea Poretti
Journal:  Childs Nerv Syst       Date:  2014-09-24       Impact factor: 1.475

7.  Diffusion tensor imaging of the brainstem in children with achondroplasia.

Authors:  Thangamadhan Bosemani; Gunes Orman; Kathryn A Carson; Avner Meoded; Thierry A G M Huisman; Andrea Poretti
Journal:  Dev Med Child Neurol       Date:  2014-05-14       Impact factor: 5.449

8.  Assessment of osteoporotic alterations in achondroplastic patients: a case series.

Authors:  Emiko Saito Arita; Maria Guadalupe Barbosa Pippa; Marcelo Marcucci; Renato Cardoso; Arthur Rodriguez Gonzalez Cortes; Plauto Christopher Aranha Watanabe; Jefferson Xavier Oliveira
Journal:  Clin Rheumatol       Date:  2012-11-24       Impact factor: 2.980

9.  Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.

Authors:  Florence Lorget; Nabil Kaci; Jeff Peng; Catherine Benoist-Lasselin; Emilie Mugniery; Todd Oppeneer; Dan J Wendt; Sean M Bell; Sherry Bullens; Stuart Bunting; Laurie S Tsuruda; Charles A O'Neill; Federico Di Rocco; Arnold Munnich; Laurence Legeai-Mallet
Journal:  Am J Hum Genet       Date:  2012-11-29       Impact factor: 11.025

Review 10.  Optimal management of complications associated with achondroplasia.

Authors:  Penny J Ireland; Verity Pacey; Andreas Zankl; Priya Edwards; Leanne M Johnston; Ravi Savarirayan
Journal:  Appl Clin Genet       Date:  2014-06-24
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