Affiliations: Department of Paediatrics, The Royal National Orthopaedic Hospital, Stanmore, Middlesex, UK
Correspondence:
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Corresponding author: Mathew Sewell, Department of Paediatrics, The Royal National Orthopaedic Hospital, Brockley Hill, Stanmore, Middlesex HA7 4LP, UK. E-mail:[email protected]
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.
