Genetic skeletal dysplasias: a guide to diagnosis and management.

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.

authors

Sewell MD,Chahal A,Al-Hadithy N,Blunn GW,Molloy S,Hashemi-Nejad A

doi

10.3233/BMR-140558

subject

Has Abstract

pub_date

2015-01-01 00:00:00

pages

575-90

issue

3

eissn

1053-8127

issn

1878-6324

pii

8264G441325021V1

journal_volume

28

pub_type

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