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Book

Osteogenesis Imperfecta

In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan.
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Book

Osteogenesis Imperfecta

Surabhi Subramanian et al.
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Excerpt

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. It is also called brittle bone disease. It is characterized by an increased susceptibility to bone fractures and decreased bone density. Other manifestations include blue sclerae, dentinogenesis imperfecta, short stature, as well as deafness in adulthood. There are also reports of valvular insufficiencies and aortic root dilation. Milder manifestations include generalized laxity, easy bruising, hernias, and excess sweating. Clinical manifestations range from mild with a nearly asymptomatic form to most severe forms (involving infants presenting with crumpled ribs, fragile cranium, and long bone fractures incompatible with life), resulting in increased perinatal mortality.

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Conflict of interest statement

Disclosure: Surabhi Subramanian declares no relevant financial relationships with ineligible companies.

Disclosure: Catherine Anastasopoulou declares no relevant financial relationships with ineligible companies.

Disclosure: Vibhu Krishnan Viswanathan declares no relevant financial relationships with ineligible companies.

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