SEARCH · PubMed Health

Results for “OSTEOGENESIS IMPERFECTA”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources

PubMed1978

Metacarpal morphometry in adults with osteogenesis imperfecta.

Osteogenesis imperfecta is often regarded as a form of osteoporosis. In many cases, particularly those in whom the first fracture occurs outside the neonatal period, bones that have not been fractured may appear radiologically normal. In a group of 24 adults with osteogenesis imperfecta the thickness of the metacarpal cortex was normal but their bones were often slender. Osteoporosis is probably not an inevitable feature of such cases, and some of the radiological abnormalities reported may be the results of previous fractures and their treatment.

Adult↗

PubMed1988

Obstetric management of a fetus with nonlethal osteogenesis imperfecta.

Osteogenesis imperfecta is the common term for a heterogeneous group of heritable disorders of connective tissue with lethal and nonlethal forms. Prenatal diagnosis presents difficult medical and ethical issues. Of concern are the following: 1) the certainty of diagnosis, 2) the severity of disease, 3) the prognosis for survival and ambulation, and 4) the appropriate mode of delivery. A case of nonlethal fetal osteogenesis imperfecta managed by vaginal delivery is discussed.

Adult↗

PubMed1996

Spinal fusion in situ in osteogenesis imperfecta.

Osteogenesis imperfecta in its most severe forms has a devastating effect on the peripheral and central skeleton, and patients are unable to walk. Spinal deformity is common and causes difficulty in sitting, pain and potentially life-threatening complications. Instrumented spinal fusion might be considered the treatment of choice, but the bone may be too weak to sustain the implants and autogenous bone graft is poor in quantity and quality. We present the preliminary results of a technique of fusion without instrumentation and using Keil bone graft in 5 patients with severe osteogenesis imperfecta. The curve was stabilised and back pain relieved.

Adult↗

PubMed2002

New uses of bisphosphonates: osteogenesis imperfecta.

Osteogenesis imperfecta is a heterogeneous group of inherited disorders chiefly affecting type I collagen, resulting in bone fragility responsible for a host of recurrent fractures. Limb and spine deformities, growth failure and restricted mobility are the end-result in severe cases. Cyclical intermittent intravenous infusions of pamidronate, a potent inhibitor of bone resorption, have yielded substantial improvement in chronic pain, bone mineral density, fracture rate and mobility without significant side effects. The role of growth hormone and bone marrow transplantation in the treatment of osteogenesis imperfecta is still unresolved. Newer, theoretically more potent bisphosphonates are currently being tested in this potentially crippling condition.

Bone Density↗

PubMed2004

Osteogenesis imperfecta.

Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass, and other connective-tissue manifestations. The most frequently used classification outlines four clinical types, which we have expanded to seven distinct types. In most patients the disorder is caused by mutations in one of the two genes encoding collagen type 1, but in some individuals no such mutations are detectable. The most important therapeutic advance is the introduction of bisphosphonate treatment for moderate to severe forms of osteogenesis imperfecta. However, at present, the best treatment regimen and the long-term outcomes of bisphosphonate therapy are unknown. Although this treatment does not constitute a cure, it is an adjunct to physiotherapy, rehabilitation, and orthopaedic care. Gene-based therapy presently remains in the early stages of preclinical research.

Bone and Bones↗

PubMed1982

Findings and long-term surgical results in the hearing loss of osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is an inherited connective-tissue disorder of variable penetrance. With OI, the triad of blue sclera, osseous fragility, and a conductive hearing loss is known as the van der Hoeve-de Kleyn syndrome. Blue sclera with a conductive loss may be a clinical subgroup of OI. Clinical findings and long-term surgical results in 62 operations in 43 patients with blue sclera are given. Osteogenesis imperfecta differs from otosclerosis in the following ways: (1) earlier onset (in the second and third decades of life), (2) more severe middle ear involvement, and (3) a higher incidence of sensorineural hearing loss. One year after stapedectomy, 38 (75%) of 51 operations had complete closure of the air-bone gap. Of the 24 operations followed up for an average of seven years (range, two to 18 years), 15 patients (62%) had no deterioration in their immediate postoperative hearing gain. Our study supports the concept that OI is clinically distinct from otosclerosis and establishes surgical intervention for its conductive hearing loss as a reasonable alternative to amplification.

Adolescent↗

PubMed1990

Transgenic mouse model of the mild dominant form of osteogenesis imperfecta.

Osteogenesis imperfecta type I is a mild, dominantly inherited, connective tissue disorder characterized by bone fragility. Mutations in type I collagen account for all known cases. In Mov-13 mice, integration of a murine retrovirus within the first intron of the alpha 1(I) collagen gene results in a null allele blocked at the level of transcription. This study demonstrates that mutant mice heterozygous for the null allele are a model of osteogenesis imperfecta type I. A defect in type I collagen production is associated with dominant-acting morphological and functional defects in mineralized and nonmineralized connective tissue and with progressive hearing loss. The model provides an opportunity to investigate the effect of a reduced amount of type I collagen on the structure and integrity of extracellular matrix. It also may represent a system in which therapeutic strategies to strengthen connective tissue can be developed.

Animals↗

PubMed1999

[Syndromes 16. Osteogenesis imperfecta].

Osteogenesis imperfecta consists of a group of hereditary connective tissue diseases with fragility of the bone as a general feature. Frequently occurring other characteristics are blue sclerae, opalescent teeth, hearing loss, disorders of the skeleton, and hyperextensibility of the joints. Obliteration and the unusual shape of the pulp chambers may interfere with dental treatment.

Humans↗

PubMed2003

[Updates in osteogenesis imperfecta].

Osteogenesis Imperfecta, a heterogenous group of inherited disorders, is characterized by both bone fragility and low bone mass. Since the Sillence classification of the disease, significant progress has been made in understanding the molecular, histological and genetical pathogenesis of the disease, and it led to expanded nosology. The multidisciplinary approach including rehabilitation, medications and surgery, may significantly improve the quality of life and prolong life expectancy.

Humans↗

PubMedDate not supplied

Part 2. Osteogenesis imperfecta.

Osteogenesis imperfecta (OI), the most common genetic disorder of bone, is characterized by frequent, unpredictable fractures of the long bones with progressive skeletal deformity. Often diagnosed in the early years of life, OI requires a comprehensive, interdisciplinary plan of care involving patient, family, and community. The nurse's role as caregiver, educator, and patient advocate is to foster normal physical and psychosocial growth and development and minimize the opportunity for fracture.

Child↗

PubMedDate not supplied

Osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a rare congenital disorder of collagen production that results in brittle bones and affects other body systems containing collagen. This article reviews the current body of knowledge about OI and the management of infants with the disorder. Relieving pain, reducing the incidence of new fractures, establishing adequate follow-up, and connecting parents with community resources are the goals of management during the neonatal period. A case study illustrates management and the discharge process.

Continuity of Patient Care↗

PubMed2005

[Bone quality in osteogenesis imperfecta].

Osteogenesis imperfecta is heritable disease that is characterized by bone fragility and low bone mass. The disorder is mainly caused by mutations in either the procollagen type I alpha1 or the procollagen type I alpha2. In general, the mutation in either gene may cause less amount of type I collagen molecule or less integrated type I collagen molecule, low quality. The former is much less severe than the latter. Bisphosphonate treatment improves bone fragility in the disease by the inhibition of increased bone turnover. This may indicates that the beneficial effects of the treatment may due to improvement of the decreased bone mass.

Bone and Bones↗

PubMed2005

Emerging therapeutic approaches for osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is an incurable genetic brittle-bone disease. Although drug therapy, surgery and physiotherapy represent current treatments for OI, the search is ongoing for effective and innovative new therapies targeting the underlying causes of the disease. In this regard, recent advances in the fields of gene and stem-cell therapies have been considerable. In spite of the many challenges that remain, potential new therapies for OI, which have been tested in cell culture systems, animal models and patients, offer hope for the future development of successful therapies. Recent progress in the field is reviewed here.

Animals↗

PubMed1995

An unusual renal complication in a patient with osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a common 'rare' disorder with a reported incidence of 1/15,000 to 1/20,000 in newborns. Skeletal abnormalities in this condition are so striking that its equally important and diverse extraskeletal manifestations frequently remain unnoticed. Sensorineural deafness, blue sclerae, myopia, easy bruisability, dental anomalies, and floppy mitral valves are some of its more frequently reported extraskeletal features. Other less common features include pulmonary hypoplasia, joint contractures, hydrocephalus, and osteogenic sarcoma. Our patient, a 16-year-old boy, developed a previously unreported complication: chronic renal failure, which on subsequent evaluation was attributed to obstructive uropathy secondary to bony pelvic outlet deformities.

Acetabulum↗

PubMed1989

Fatal intraoperative hemorrhage during spinal fusion surgery for osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is an uncommon inherited systemic disorder of the connective tissues characterized primarily by varying degrees of bony fragility. Consequently, individuals affected by this condition frequently suffer severe skeletal injuries from otherwise innocuous traumatic events. This syndrome has other associated abnormalities, including hydrocephalus and brain stem compression on the basis of cranial developmental defects (platybasia), cardiac and vascular problems, respiratory disease from spinal deformities, vascular fragility, a bleeding disorder caused by an apparent platelet function abnormality, and anesthesia-related hyperpyrexia. A case is presented here of a young girl with advanced OI in whom intraoperative death occurred as a consequence of inadvertent rib fractures, with subsequent uncontrollable hemorrhage. OI may also potentially be mistaken for child abuse by an inexperienced examiner.

Child↗

PubMed2003

Cochlear implantation in a child with osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a hereditary disease of connective tissue and affects bone, dentine, sclera, joint, tendon, blood vessels, heart valves, and skin. Approximately 50% of the adult patients with OI have associated hearing impairment. To date, only three cases of cochlear implantation in adults with OI have been reported, but none in children. We present a case of cochlear implantation in a congenitally deaf 6-year-old boy with OI. The Nucleus 24 Contour device was successfully implanted using the suprameatal approach (SMA). At 6 months post-initial stimulation there was no evidence of non-acoustic nerve excitation (i.e. facial twitching) or discomfort, and significant progress in auditory abilities was manifested by open set word identification.

Audiometry↗

PubMed1999

Aortic dissection: a rare complication of osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is an inherited connective tissue disorder, a group that includes Ehlers-Danlos syndrome, Marfan's syndrome and pseudoxanthoma elasticum. OI is a heterogeneous disease of collagen I biosynthesis characterized by variable clinical phenotypes, including skeletal and cardiovascular manifestations. A 65-year-old man with OI who had extensive prior successful cardiac valve surgeries is described. He survived for 18 years after his initial valve surgery, but died of multiorgan failure and sepsis after repair of a spontaneous type A aortic dissection. This is the fourth reported case of aortic dissection secondary to OI and illustrates the extensive cardiovascular pathology associated with OI. Aggressive management of arterial dissection risk factors, such as systemic arterial hypertension, is advocated for patients with OI.

Aged↗

PubMed2000

Bisphosphonate therapy for severe osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a heterogeneous group of disorders principally affecting type I collagen. Children with the severe forms of the condition suffer recurrent fractures resulting in limb and spine deformities, and restricted ambulation. Recently, cyclical intravenous administration of pamidronate has proven of benefit to children with the severe forms of OI. Bone mineral density increased, and the incidence of fractures decreased. The treatment does not alter fracture healing, growth rate, or growth plate appearances. Dependence on mobility aids is reduced and there is substantial relief of chronic pain and fatigue. No significant adverse side effects have been noted. New bisphosphonates are under investigation to compare their effects to those of pamidronate. Although the use of bisphosphonates does not address the basic abnormalities that underlie the OI syndromes, it represents the first therapy to significantly alter the natural course of the disease and improve patients' clinical status and quality of life.

Child, Preschool↗