Genetic disease in which bones are thin, poorly developed, and fracture easily

Expression dependent on whether defect is carried as a trait or clinically obvious

Autosomal dominant disorder occurring in about 1 in 30,000 live births

Affects males and females equally

Also called little bone disease

Pathogenesis begins when mutations in the genes change the structure of collagen.

Possible mutations in other genes may cause variations in the assembly and maintenance of bone and other connective tissues.

Collectively or alone, these mutated genes lead to pathologic fractures and impaired healing.

Autosomal recessive carriage of gene defects producing osteogenesis imperfecta in homozygotes (osteoporosis in some)

Genetic disease, typically autosomal dominant (characterized by a defect in the synthesis of connective tissue)