释义 |
osteogenesis imperfecta type III osteogenesis imperfecta type IIIa 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.os·te·o·gen·e·sis im·per·fec·ta type III (os'tē-ō-jen'ĕ-sis im'pĕr-fek'tă tīp) A progressive deforming form with severe bone fragility, easy fractures, triangular facies with relative macrocephaly, skeletal deformities with scoliosis, bowing of limbs, dwarfism, and radiographic findings of metaphyseal flaring of long bones with sutural bone formation. Most cases are autosomal dominant disorders, but autosomal recessive inheritance has also been described. os·te·o·gen·e·sis im·per·fec·ta type III (os'tē-ō-jen'ĕ-sis im-pĕr-fek'tă tīp) 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. |