Genetic skeletal dysplasias: a guide to diagnosis and management.
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.
Mathew David
MD
Sewell
Amanjot
A
Chahal
Nawfal
N
Al-Hadithy
Gordon W
GW
Blunn
Sean
S
Molloy
Aresh
A
Hashemi-Nejad
D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D011788:Quality of Life; D013122:Spinal Diseases / Q000175:diagnosis* / Q000628:therapy*
Skeletal dysplasia; chondrodysplasias; diagnosis; genetics; management; spine