Osteogenesis imperfecta

The classic Sillence classification of the four types of osteogenesis imperfecta (OI) has been extended by six additional forms in recent years. OI is a heterogeneous disease, which can exhibit a mild, moderate and severe clinical picture. The clinical variability is expressed by a different frequency of fracture incidences and bone deformity risks so that both factors lead to very different degrees of mobility and autonomy of patients. The treatment principles comprise long standing medication of bisphosphonates, rehabilitation measures and orthopedic treatment. The orthopedic treatment uses modern techniques of conservative and operative fracture management for fracture stabilization and modern telescopic rods for deformity correction. These combined treatment modalities have given an improved quality of life to OI patients of all severity grades.     

Osteogenesis imperfecta

Background

Osteogenesis imperfecta (OI) is the most common genetic disease of bone and is characterized by fragile bones and growth disorders of varying severity. Most cases of OI are inherited autosomal dominant and caused by a mutation in the collagen type I gene.

Diagnostics

Indications for OI are bone fragility, stunted growth, scoliosis, skull deformities, blue sclera, loss of hearing, dentinogenesis imperfecta and increased laxity of ligaments and skin. In most cases it is possible to make a clinical diagnosis but a skin biopsy or genetic testing can be useful; however, negative results for these tests do not exclude OI.

Therapy

Therapy must be carried out in a multidisciplinary team and includes conservative (e.g. physiotherapy, rehabilitation programs and orthopedic aids), operative (e.g. intramedullary stabilization procedures) and pharmaceutical (e.g. biphosphonates and growth hormones) procedures.

Prognosis

The prognosis depends on the type of OI and ranges from normal life expectations for type 1 patients up to up to perinatal mortality for type II patients.

     

Osteogenesis imperfecta

Osteogenesis imperfecta describes a group of heritable disorders characterized by excessive bony fragility and reduced skeletal mass. It is classified in terms of its clinical manifestations, but our understanding of the underlying genetic defects in collagen synthesis is increasing rapidly. The nonoperative and surgical orthopedic approaches to osteogenesis imperfecta aim at the maximum preservation of limb strength and the correction of deformities. Various pharmacologic agents have been administered to patients with osteogenesis imperfecta, but to date, none have proved effective in controlled trials. Prenatal diagnosis has been attempted and seems certain to assume greater importance as knowledge of the molecular genetic basis of the disease increases.     

Osteogenesis imperfecta.

Osteogenesis imperfecta is a relatively common hereditary connective tissue disorder characterized by bone fragility and fractures. Other frequently affected tissues include tendons, ligaments, skin, sclera, teeth, and middle and inner ear. Molecular studies have demonstrated that most cases result from mutations affecting the genes responsible for the formation of type 1 collagen. The phenotypic presentation varies from mild to lethal. Commonly observed dental abnormalities include dentinogenesis imperfecta and malocclusion. Medical therapies using bisphosphonates have resulted in reduced fracture risk and decreased bone pain. To date, no cases of bisphosphonate-associated osteonecrosis have been reported. With appropriate precautions, the patient with osteogenesis imperfecta can tolerate and benefit from the delivery of necessary dental care to control oral disease, improve function, and improve esthetics.     

Osteogenesis imperfecta]

The paper describes patients with osteogenesis imperfecta (oi). It gives the causes of oi, shows types according to Sillence. Discuss clinical and radiological appearance of the patients. It provides the latest information about rehabilitation and surgical treatment (multilevel osteotomies and rodding), and supplementation of osteoporosis connecting with oi.     

Osteogenesis imperfecta: diagnosis and treatment

Osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis imperfecta, hearing loss, and scoliosis. In 1979, Sillence classified the condition into four types based on genetic and clinical criteria. Three more classifications have subsequently been added. Diagnosis of osteogenesis imperfecta may be done prenatally (in severe cases), clinically, radiographically, or via biochemical or genetic examination. Medical treatment consists of bisphosphonate use, even in patients younger than age 2 years. Surgical treatment consists of internal splinting of long bones. Research is currently being done on the use of smart intramedullary rods (ie, composed of nitinol shape-memory alloy) for correction of bone deformity and on the use of bone marrow transplantation to increase osteoblast density, thereby reducing fracture frequency.     

Osteogenesis imperfecta: Epidemiology and pathophysiology

Osteogenesis imperfecta (OI) is the most common of the inherited connective tissue disorders that primarily affect bone. However, it is a systemic disorder, as evidenced by the occurrence of ocular complications, dentinogenesis imperfecta, hearing loss, joint laxity, restrictive pulmonary disease, and short stature. The OI classification initially included four phenotypes (I-IV) involving COL1A1 and COL1A2 mutations. Three new phenotypes have been added, of which one, type VII, is the result of mutations of the cartilage-associated protein (CRTAP) gene. Investigation of recessive forms of OI particularly reported among South African blacks have revealed mutations involving both the CRTAP gene and the leucine proline-enriched proteoglycan 1 (LEPRE1) gene, each involved in collagen proline-3 hydroxylation. Issues related to the treatment of OI with bisphosphonates involve patient selection, evaluation of the results of treatment, and the duration of treatment. Also, questions exist regarding the difference in treatment response between children and adults with OI. Other treatment options, such as recombinant human parathyroid hormone (1-34), Rank ligand inhibitors, and stem cell technology, are being evaluated or are of future investigative interest.     

成骨不全1例家系报道

1病例资料患者,女,18岁,系扭伤后右膝肿痛、活动受限3 h于2011年7月11日入院。有成骨不全病史及右膝手术史。出生后至今发生多次骨折,其中左肘部发生3次,右膝部发生4次。查体:巩膜呈     

Osteogenesis imperfecta. Perspectives

Osteogenesis imperfecta is a heterogenous group of inherited conditions arising from a variety of biochemical and morphological collagen defects. The broad manifestations of abnormalities in bones, teeth, scleri, ligaments, and other collagen-containing tissues point to the heterogeneity of the condition. Diagnosis in the neonatal period is based on clinical characteristics, roentgenograms, and a detailed family history. Treatment is conservative when possible, and particular attention is paid to the social development of the growing child as well as to genetic counseling for parents. Modes and surgical treatment include osteoclasis and percutaneous pinning for long-bone deformities in the infant and, in the child older than two years of age, segmentation and the use of telescoping rods. Surgical treatment of spinal deformity is dependent on the age of the patient and the severity of the condition. Biochemical research is being conducted using direct tissue analyses and analyses of cultured fibroblasts and osteoblasts.