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osteogenesis imperfecta type III


Definition: a progressive deforming form with severe bone fragility, easy fractures, triangular facies with relative macrocephaly, skeletal deformities with scoliosis, pectus and bowing of limbs, dwarfism, and radiographic findings of metaphysial flaring of long bones with sutural bone formation. Most cases are autosomal dominant disorders, but autosomal recessive inheritance has also been described.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.