Journal article

Optimal management of complications associated with achondroplasia

Penny J Ireland, Verity Pacey, Andreas Zankl, Priya Edwards, Leanne M Johnston, Ravi Savarirayan

The Application of Clinical Genetics | DOVE MEDICAL PRESS LTD | Published : 2014

Abstract

Achondroplasia is the most common form of skeletal dysplasia, resulting in disproportionate short stature, and affects over 250,000 people worldwide. Individuals with achondroplasia demonstrate a number of well-recognized anatomical features that impact on growth and development, with a complex array of medical issues that are best managed through a multidisciplinary team approach. The complexity of this presentation, whereby individual impairments may impact upon multiple activity and participation areas, requires consideration and discussion under a broad framework to gain a more thorough understanding of the experience of this condition for individuals with achondroplasia. This paper exam..

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