成骨不全症中蓝色巩膜的自然病史。
Natural history of blue sclerae in osteogenesis imperfecta.
作者信息
Sillence D, Butler B, Latham M, Barlow K
机构信息
Medical Genetics and Dysmorphology Unit, Children's Hospital, Camperdown, New South Wales, Australia.
出版信息
Am J Med Genet. 1993 Jan 15;45(2):183-6. doi: 10.1002/ajmg.1320450207.
Scleral hue is an important sign which distinguishes 2 broad groupings of patients, those with and those without blue sclerae with nonlethal osteogenesis imperfecta (OI). Individuals with OI type I have distinctly blue sclerae which remain intensely blue throughout life. In OI type III and OI type IV the sclerae may also be blue at birth and during infancy, but the intensity fades with time such that these individuals have sclerae of normal hue by adolescence and adult life.
巩膜颜色是区分两大类患者的重要体征，一类是患有非致死性成骨不全症（OI）且巩膜呈蓝色的患者，另一类是不患有该疾病的患者。I型成骨不全症患者的巩膜呈明显的蓝色，且终生保持深蓝色。III型和IV型成骨不全症患者在出生时及婴儿期巩膜也可能呈蓝色，但随着时间推移，蓝色会逐渐变淡，到青春期及成年期时，这些患者的巩膜颜色会恢复正常。
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