osteogenesis imperfecta type III

osteogenesis imperfecta type III

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.

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.
References in periodicals archive ?
Osteogenesis imperfecta type III: Delineation of the phenotype with reference to genetic heterogeneity.
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa.
Osteogenesis imperfecta type III: An ancient mutation in Africa?
Osteogenesis imperfecta type 3 in South Africa: causative mutations in FKBP10
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. Hum Genet 1995;95:215-8.
Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family
Common AR conditions such as the aforementioned genetic blood dyscrasias and rare AR disorders such as undifferentiated congenital deafness, osteogenesis imperfecta type III and spinal muscular atrophy, exemplify this situation.
Genetic disorders in the Indian community of South Africa
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