Searching for just a few words should be enough to get started. If you need to make more complex queries, use the tips below to guide you.
Subtitle:
Article type: Research Article
Authors: Sewell, Mathew David* | Chahal, Amanjot | Al-Hadithy, Nawfal | Blunn, Gordon W. | Molloy, Sean | Hashemi-Nejad, Aresh
Affiliations: Department of Paediatrics, The Royal National Orthopaedic Hospital, Stanmore, Middlesex, UK
Correspondence: [*] Corresponding author: Mathew Sewell, Department of Paediatrics, The Royal National Orthopaedic Hospital, Brockley Hill, Stanmore, Middlesex HA7 4LP, UK. E-mail:matbuzz1@hotmail.com
Abstract: The skeletal dysplasias are a large, heterogeneous group of genetic disorders characterised by abnormal growth, development and remodelling of the bones and cartilage that comprise the human skeleton. They typically present with disproportionate short stature in childhood, or premature osteoarthritis in adulthood. The latest classification lists 456 disorders under 40 group headings differentiated by specific clinical, radiographic and molecular criteria. Establishing an accurate diagnosis is important to predict final height, expected complications and treatment, and for specific genetic and psychological counselling. In addition to the skeletal disorder, individuals frequently demonstrate abnormalities of hearing, vision, neurological, pulmonary, renal or cardiac function that require multidisciplinary assessment. This review provides a guide to diagnosis and discusses management principles for the common limb and spinal abnormalities that affect quality of life for the majority.
Keywords: Skeletal dysplasia, chondrodysplasias, management, genetics, diagnosis, spine
DOI: 10.3233/BMR-140558
Journal: Journal of Back and Musculoskeletal Rehabilitation, vol. 28, no. 3, pp. 575-590, 2015
IOS Press, Inc.
6751 Tepper Drive
Clifton, VA 20124
USA
Tel: +1 703 830 6300
Fax: +1 703 830 2300
sales@iospress.com
For editorial issues, like the status of your submitted paper or proposals, write to editorial@iospress.nl
IOS Press
Nieuwe Hemweg 6B
1013 BG Amsterdam
The Netherlands
Tel: +31 20 688 3355
Fax: +31 20 687 0091
info@iospress.nl
For editorial issues, permissions, book requests, submissions and proceedings, contact the Amsterdam office info@iospress.nl
Inspirees International (China Office)
Ciyunsi Beili 207(CapitaLand), Bld 1, 7-901
100025, Beijing
China
Free service line: 400 661 8717
Fax: +86 10 8446 7947
china@iospress.cn
For editorial issues, like the status of your submitted paper or proposals, write to editorial@iospress.nl
如果您在出版方面需要帮助或有任何建, 件至: editorial@iospress.nl