Autosomal dominant disorder in which expression of the fibrillin gene is abnormal –> elastic tissue is abnormal.
Sufferers are abnormally tall, exhibit arachnodactyly (long fingers), have frequent joint dislocation and can be at risk of catastrophic aortic rupture.
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Q
What are the two types of osteoporosis?
A
Type 1 - post-menopausal women - increase in osteoclast number with oestrogen withdrawal
Type 2 - elderly men and women - attenuated osteoblasts function