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Hereditary connective tissue disease

Dr Yuranga Weerakkody and Dr Jeremy Jones et al.

The hereditary connective tissue diseases are a group of connective tissue disease that have a degree of inheritance risk. They include :

Marfan syndrome : genetic disease causing abnormal fibrillin
Ehlers-Danlos syndrome : progressive deterioration of collagen and affects joints, heart valves, organ walls, arterial walls and soft tissues
osteogenesis imperfecta : insufficient good quality collagen for bone formation
Stickler syndrome : affects collagen and results in characteristic facies

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