14 Table 2 Extra-skeletal features of the different OI types Features Pathway Prevalence Blue sclerae - Corneal thinning 21,22. - Decreased light scattering by the sclera 23. - Increased visibility of the underlying choroid and melanocytes beyond the scleral external surface 24. Common Glaucoma - Thinner cornea is a risk factor in glaucoma 25. Rare Dentinogenesis Imperfecta - Colour: Opalescent dentin, pigments and inclusion of remnants of blood vessels 26,27. - Fractures: scalloping interface between dentin and the enamel is absent 28, or dentin frailty 27. - Size and shape: defective type I collagen causes poor mineralization density and abnormal fibrillar structure 29. Common Cranial base anomalies: - Platybasia - Basilar impression - Basilar invagination - Deformation under the strain of the brain, differential growth deficiency and bending or fractures of the skeletal cranial structures 30. Common Bleeding tendency - Abnormal structure and function of the vessel wall, resulting in increased fragility and susceptibility to bleeding (Chapter 5). - Altered extracellular matrix in OI affects platelet function and activation, leading to impaired haemostasis 31-33. Common Skin - Thinness, fragility and translucency - Elastosis perforans serpiginosa - The dermis has a relative increase of argyrophil and elastic fibres and a deficiency of adult collagen 34,35. - Alteration in the elastic fibres 36,37. Rare Hearing loss - Among others: Ossicular chain problems 38. Common Cardiovascular disease - Collagen type 1 in myocardium and vessels 39. Unknown Pulmonary dysfunction - Chest wall abnormalities 40,41. - Pulmonary parenchymal abnormalities 41,42. Intermediate Muscle weakness, tendon and ligament laxity. - Muscle: Delayed motor milestones due to severely bowed legs or fractures 43. - Tendon and ligaments: unknown 44. Common Osteoarthritis and other joint problems - Secondary to musculoskeletal concerns 44. Common Short stature - Secondary to skeletal abnormalities 8. Common Quality of life in OI The World Health Organization (WHO) defines quality of life as an “individual’s perceptions of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, norms and concerns” 48. Health can have a major impact on quality of life because health is determined by the effect of illness and impairment on daily activities and behaviours, perceived health and functional status 49. Thus, quality of life has a broad scope and is influenced by several factors. OI primarily affects bone quality, but also potentially affects all other structures containing collagen type 1. Physically measurable factors such as fractures, decreased
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