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Clinical management of achondroplasia
  1. M J Wright1,
  2. M D Irving2
  1. 1Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
  2. 2Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK
  1. Correspondence to Dr M J Wright, Northern Genetics Service, Institute of Human Genetics, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; michael.wright{at}nuth.nhs.uk

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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