BACKGROUND Upper limb deformity in children with osteogenesis imperfecta may substantially impair function. The aims of this retrospective work were to study the prevalence of radial head malalignment (dislocation or subluxation) in different types of osteogenesis imperfecta and to identify factors linked to it. METHODS We assessed 489 upper limbs from 254 patients (with a mean age of 9.6 yea...

Osteogenesis imperfecta is a disorder of connective tissue, existing in a severe form (congenita) and a milder form (tarda) both being inherited as an autosomal dominant (McKusick, 1966). Recently Aeschlimann, Grunt, and Crigler (1966) and Bilginturan and Ozsoylu (1966) reported three infants with osteogenesis imperfecta congenita who improved, as regards survival and frequency of spontaneous f...

Osteogenesis imperfecta is an incurable genetic disorder manifested with altered bone quality that predisposes patients to a multitude of fractures throughout their lives, including acetabular fractures. The management of acetabular fractures in patients with osteogenesis imperfecta remains a challenging clinical problem, with a paucity of literature supporting treatments and their outcomes. Li...

Background: Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue. In this article we reviewed epidemiology, types OI, pathophysiology, symptoms and potential therapies.Material methods: This paper was based on medical articles collected in PubMed from 2006 to 2022, websites books. The research has been done by looking through key words such as: „osteogenesis im...

``Osteogenesis imperfecta'' and ``vitreous osteoporosis'' are genetic diseases in most of their cases, that is, it is sufficient for one the parents to be a disease carrier order have children suffering from it. It main protein source bone structure leading this disorder; however, factor common accounts about 80 85% causes osteogenesis imperfecta. The congenital disorder associated with defect ...

Osteogenesis imperfecta is caused by qualitative or quantitative defects in type I collagen. Although often considered a disease with primarily pediatric manifestations, more than 25% of lifetime fractures are reported to occur in adulthood. General care of adults with osteogenesis imperfecta involves measures to preserve bone density, regular monitoring of hearing and dentition, and maintenanc...

Osteogenesis imperfecta is a genetic disorder characterized by increased susceptibility to fractures and vascular injuries due to connective tissue fragility. In this case report, we present a patient with osteogenesis imperfecta type I who sustained a transverse fracture of the right acetabulum while transferring from bed to chair. The fracture was repaired through an ilioinguinal approach. Du...

BACKGROUND The first case of Osteogenesis Imperfecta Type V in the Polish literature is reported. CASE REPORT Skeletal survey of an 8 year old girl with a history of multiple fractures and bilateral dislocation of radial heads was received for consultation. CONCLUSIONS Generalised osteoporosis with multiple fractures, periosteal thickening and bilateral dislocation of the radial heads are c...

Osteogenesis imperfecta is a heritable disorder that causes bone fragility. Mutations in type I collagen result in autosomal dominant osteogenesis imperfecta, whereas mutations in either of two components of the collagen prolyl 3-hydroxylation complex (cartilage-associated protein [CRTAP] and prolyl 3-hydroxylase 1 [P3H1]) cause autosomal recessive osteogenesis imperfecta with rhizomelia (short...

Osteogenesis imperfecta is a hereditary connective tissue disorder characterized primarily by fractures with no or small causal antecedent; in most patients this is a consequence of diminished or abnormal production of collagen type I. It is a clinically heterogeneous disorder: it has been proposed recently to classify osteogenesis imperfecta in types I-V on the basis of the clinical picture an...