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251  Articles
1 of 26 pages  |  10  records  |  more records»
Osteogenesis imperfecta (OI) is a connective tissue formation disorder that is generally characterized by bone fragility, osteopenia, blue sclera, dentinogenesis imperfecta (DI), and hearing loss. This disease occurs due to changes in collagen type 1 that... see more

The aim of this paper is to describe the varying clinical and imaging manifestations of Osteogenesis Imperfecta (OI) in the fetus, the child, and the adult. OI is a genetic disorder with mutation of Type 1 and non-type 1 collagen genes that results in dis... see more

Osteogenesis Imperfecta (OI) is defined as genetic disorders presented by various clinical presentations, such as bone deformities, abnormalities in dental structure, deafness, blue sclera, growth retardation, and ligament laxity. Most OI patients have a ... see more

Introduction: Osteogenesis imperfecta (OI) is a heritable disorder of the connective tissue that mainly manifests as bone fragility. Other signs and symptoms may be present, such as sensorineural hearing loss, cardiac malformations, and teeth alterations.... see more

Introduction: Osteogenesis imperfecta (OI) is a heritable disorder of the connective tissue that mainly manifests as bone fragility. Other signs and symptoms may be present, such as sensorineural hearing loss, cardiac malformations, and teeth alterations.... see more

Introdução: A Osteogenesis Imperfecta (OI) é uma doença geneticamente heterogênea, pois apresenta herança autossômica dominante e recessiva, com defeito na síntese do colágeno tipo I. Existem três tipos, sendo a do tipo III, considerada a mais grave. De f... see more

A 14 months -old male patient is brought to the outpatient clinic with a history of multiple bone fractures, he was born with fractures in left femur and humerus and presented 3 more fractures until the first consultation. There was no family history of g... see more

Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins to metabolize collagen. The skeletal manifestation of OI causing bone incompetence, hence the name brittle bone disease. Here... see more

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