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.     

Epidermolysis bullosa misdiagnosed as child abuse. A report of 3 cases

Three cases of epidermolysis bullosa are reported; the typical skin lesions were misdiagnosed as non-accidental injury to the children. Awareness of the manifestations of this uncommon genodermatosis, as well as the wearing of identifying Medic Alert discs, should prevent this inappropriate diagnostic stigmatization.     

Osteogenesis imperfecta as an interdisciplinary medical problem]

In years 2001-2003 six children (3 boys ond 3 girls) from 2.1 to 18.7 years old with osteogenesis imperfecta (OI) were treated in our clinic. Besides clinical and radiological evaluation, densitometry and biochemical analysis of collagen were performed. Biochemical analysis was performed on cultured in vitro fibroblasts from the skin biopsies. Based on this findings 1 child was graded as type I of OI, 4 children as type III and 1 as type IV. Recognition of collagen defect helps with diagnosis and makes the decision for pharmacological treatment easier. In 1 child with the dramatic type III OI therapy with pamidronian was implemented with good result. Performed surgical treatment, intramedullar stabilisation with Rush rod, proved to be useful choice in correcting axial deformations of the lower extremities and preventing from the future fractures.     

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.     

Osteogenesis imperfecta presenting as simultaneous bilateral tibial tubercle avulsion fractures in a child: a case report

This is a case report of a unique presentation of a mild form of osteogenesis imperfecta (OI) (type IA) in a 9-year-old African-American boy who presented with simultaneous bilateral tibial tubercle avulsion fractures. The boy presented to the authors' emergency room complaining of acute bilateral knee pain. He could not perform a straight leg raise. Other than his orthopaedic examination, significant findings included blue sclera and irregular teeth. Radiographs and magnetic resonance imaging (MRI) confirmed bilateral tibia tubercle avulsion fractures. The patient underwent open reduction and internal fixation of his fractures, and postoperative genetic testing confirmed that the patient was heterozygous for OI. The authors present the fourth reported case of simultaneous bilateral tibial tubercle fractures. To their knowledge this is the first case of OI presenting with these fractures, the youngest reported case, and the first case with MRI documentation.