Literature DB >> 24311312

Airway malacia in children with achondroplasia.

Kimberly E Dessoffy1, Peggy Modaff, Richard M Pauli.   

Abstract

This study was undertaken to assess the frequency of airway malacia in infants and young children with achondroplasia, a population well known to be at risk for a variety of respiratory problems. We also wished to evaluate what, if any, contribution airway malacia makes to the complex respiratory issues that may be present in those with achondroplasia. Retrospective chart review of all infants and young children with achondroplasia who were assessed through the Midwest Regional Bone Dysplasia Clinics from 1985 through 2012 (n = 236) was completed. Records of comprehensive clinical examinations, polysomnographic assessments, and airway visualization were reviewed and abstracted using a data collection form. Analyses were completed comparing the group with and those without evidence for airway malacia. Thirteen of 236 patients (5.5%) were found to have airway malacia. Most of those affected had lower airway involvement (9/13). The presence of airway malacia was correlated with an increased occurrence of obstructive sleep apnea as well as need for oxygen supplementation, airway surgeries and tracheostomy placement. Although estimates of the frequency of airway malacia in the general population are limited, its frequency in children with achondroplasia appears to be much higher than any published general population estimate. The presence of airway malacia appears to confound other breathing abnormalities in this population and results in the need for more invasive airway treatments.
© 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  achondroplasia; airway obstruction; bone dysplasias; bronchomalacia; laryngomalacia; malacia; natural history; respiratory problems; tracheomalacia

Mesh:

Year:  2013        PMID: 24311312     DOI: 10.1002/ajmg.a.36303

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


  5 in total

Review 1.  Acute upper airway obstruction and emergency front of neck access in an achondroplastic patient.

Authors:  Craig James McCaffer; Catriona Douglas; Matthew H Wickham; Gerard L Picozzi
Journal:  BMJ Case Rep       Date:  2015-03-31

Review 2.  Sleep disordered breathing in children with achondroplasia.

Authors:  Marco Zaffanello; Gaetano Cantalupo; Giorgio Piacentini; Emma Gasperi; Luana Nosetti; Paolo Cavarzere; Diego Alberto Ramaroli; Aliza Mittal; Franco Antoniazzi
Journal:  World J Pediatr       Date:  2016-10-15       Impact factor: 2.764

Review 3.  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 4.  Achondroplasia: a comprehensive clinical review.

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

5.  Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.

Authors:  Ravi Savarirayan; David E Tunkel; Laura M Sterni; Michael B Bober; Tae-Joon Cho; Michael J Goldberg; Julie Hoover-Fong; Melita Irving; Shawn E Kamps; William G Mackenzie; Cathleen Raggio; Samantha A Spencer; Viviana Bompadre; Klane K White
Journal:  Orphanet J Rare Dis       Date:  2021-01-14       Impact factor: 4.123

  5 in total

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