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PubMed1986

[Genetic heterogeneity of osteogenesis imperfecta. Study of 6 cases].

Osteogenesis imperfecta one of the most common disorders of connective tissue, has been known for centuries. The most characteristic alterations which define it are: osteoporosis, osseous fragility with multiple fractures, blue sclerae, deafness and imperfect dentinogenesis. Important advances in the biochemical, anatomopathological, genetic, therapeutic and prophylactic fields have resulted in a great present-day interest in this disease. In this work we report six cases of osteogenesis imperfecta according to the current classification and we review the most outstanding aspects.

Adult↗
PubMed2004

Combination of femoral fracture treatment and corrective osteotomy in a child with osteogenesis imperfecta.

The main feature of osteogenesis imperfecta is an excessive fragility and deformability of the bones owing to reduced mass and bone quality. This leads to angular deformity and frequent fractures. These fractures usually heal rapidly, and conservative treatment is the norm. In displaced and unstable fractures, elastic intramedullary nailing is a treatment option. We report a case of a 3-year-old child with osteogenesis imperfecta type I who suffered an undisplaced femoral shaft fracture in the presence of a preexisting 32 degrees femoral antecurvation. This deformity greatly increases the risk of a refracture due to the pathological induction of stress risers. Therefore, fracture treatment by unreamed elastic intramedullary nailing was combined with simultaneous correction osteotomy, resulting in anatomic alignment and uncomplicated fracture healing. The single-stage surgical stabilization performed allowed rapid mobilization along with a decreased likelihood of refracture.

Bone Nails↗
PubMed1994

Bone density in osteogenesis imperfecta may well be normal.

Osteogenesis imperfecta (OI) is often regarded as a form of osteoporosis. However, the bone fragility is the result of defective collagen and earlier work has demonstrated that cortical thickness, in bones not previously fractured, is usually normal. We have now measured the bone mineral content of the distal forearm in 61 adult patients with well characterized OI. Three patients with the Silence type III disorder had bone mass values well below the reference interval. For the 47 type I patients and 11 type IV patients, the bone mass was significantly lower than normal (P < 0.001). However 70% of patients had values within the reference interval. One cannot therefore exclude the diagnosis of OI by finding normal values with densitometry. Diagnostic difficulties do not occur in type III patients and our main objective was to recruit as many individuals as possible with OI types I and IV. In the type IV disease, the diagnosis can be particularly difficult without a positive family history. Since the evaluation of bone density by subjective examination of radiographs is a much less precise procedure, most patients with type I and IV OI would be expected to have 'normal' appearances with this assessment. Osteogenesis imperfecta cannot be excluded on the basis of apparently normal bone density or cortical thickness with routine radiographs.

Absorptiometry, Photon↗
PubMed1991

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.

A proband with lethal osteogenesis imperfecta has been investigated for the causative defect at the levels of collagen protein, mRNA, and DNA. Analysis of type I collagen synthesized by the proband's fibroblasts showed excessive post-translational modification of alpha 1(I) chains along the entire length of the helix. Oververmodification of alpha chains could be prevented by incubation of the cells at 30 rather than 37 degrees C, and the thermal stability of the triple helix, as determined by protease digestion, was normal. RNase A cleavage of RNA:RNA hybrids formed between the proband's mRNA and antisense RNA derived from normal pro-alpha 1(I) chain cDNA clones was used to locate an abnormality to exon 43 of the proband's pro-alpha 1(I) collagen gene (COL1A1). The nucleotide sequence of the corresponding gene region showed, in one allele, the deletion of 9 base pairs, not present in either parent, within a repeating sequence of exon 43. The mutation causes the loss of one of three consecutive Gly-Ala-Pro triplets at positions 868-876, but does not otherwise disrupt the Gly-X-Y sequence. Procollagen processing in fibroblast cultures and susceptibility of the mutant collagen I to cleavage with vertebrate collagenase were normal, indicating that the slippage of collagen chains by one Gly-X-Y triplet does not abolish amino-propeptidase and collagenase cleavage sites. How the mutation produces the lethal osteogenesis imperfecta phenotype is not entirely clear; the data suggest that the interaction of alpha chains immediately prior to helix formation may be affected.

Amino Acid Sequence↗
PubMed1999

Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta.

STUDY DESIGN: A cross-sectional radiologic and clinical study of patients with osteogenesis imperfecta. OBJECTIVES: To determine whether pulmonary compromise is more closely correlated with scoliosis, kyphosis, or chest wall deformity in the population with osteogenesis imperfecta, and to assess the impact of spinal deformity, chest wall deformity, and pulmonary function on quality of life. SUMMARY OF BACKGROUND DATA: The incidence of scoliosis in osteogenesis imperfecta is between 39% and 80%. Up to 60% of patients with osteogenesis imperfecta have significant chest wall deformities. Pulmonary compromise is the leading cause of death in adults with osteogenesis imperfecta. METHODS: Fifteen patients with osteogenesis imperfecta between the ages of 20 and 45 were evaluated with sitting or standing anteroposterior and lateral radiographs of the entire spine, pulmonary function testing, and a validated health self-assessment questionnaire (Short Form-36). Radiographs were evaluated for thoracic scoliosis, thoracic kyphosis, and chest wall deformity. Correlation analysis was performed. RESULTS: Thoracic scoliosis was strongly correlated with decreased predicted vital capacity (r = -0.76). Significant diminution in vital capacity below 50% occurred at a curve magnitude of 60 degrees. Kyphosis and chest wall deformity were not predictive of decreased pulmonary function. Physical health (PCS) was closely correlated with predicted vital capacity (r = 0.65; P < 0.01) and with scoliosis (r = -0.52; P < 0.05). CONCLUSIONS: Thoracic scoliosis of more than 60 degrees has severe adverse effects on pulmonary function in those with osteogenesis imperfecta. This finding may partly explain the increased pulmonary morbidity noted in adult patients with osteogenesis imperfecta and scoliosis compared with that in the general population.

Adult↗
PubMed2006

Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta.

OBJECTIVE: Children with the severe forms of osteogenesis imperfecta have in several studies been treated with intravenous pamidronate, but there are only few reports of the effect of early treatment. AIM: To evaluate the effect of treatment started in infancy. METHODS: In a prospective observational study, with a historic control group, intravenous disodium pamidronate (APD) was given as monthly infusions to 11 children with osteogenesis imperfecta aged 3-13 (median 3.6) months, who had severe osteogenesis imperfecta with congenital bowing of the femora and vertebral compression fractures. RESULTS: During treatment of children aged between 3 and 6 (median 4.5) years, dual-energy x ray absorptiometry measurements of the lumbar spine showed a gradual increase in bone density. Bone metabolism parameters in serum (alkaline phosphatase, osteocalcin, procollagen 1 carboxy-terminal peptide, collagen 1 teleopeptide) and in urine (deoxypyridinoline) indicated a decrease in bone turnover. An improvement of mobility was seen and at the latest recording, at the age of 3.3-6.5 (median 4.8) years, the children could all walk. Vertebral remodelling was seen, with increased vertebral height, and no child developed scoliosis, kyphosis or basilar impression. All children required femoral intramedullar rods for fractures, and five needed tibial rodding for extreme curvatures that prevented functional standing and walking. No adverse effects were seen on growth, fracture healing or blood chemistry. CONCLUSIONS: APD is an efficient symptomatic treatment for infants with severe osteogenesis imperfecta, but additional orthopaedic surgery is often needed. Early treatment may prevent scoliosis and basilar impression. Long-term follow-up is important.

Absorptiometry, Photon↗
PubMed1979

In vitro sulfate turnover in osteogenesis imperfecta congenita and tarda.

Sulfate (35SO4(-2)) uptake was studied in confluent skin fibroblasts from three patients with osteogenesis imperfecta "congenita," six patients with osteogenesis imperfecta "tarda," three clinically unaffected relatives of an osteogenesis imperfecta tarda patient, and four controls. Only two of the osteogenesis imperfecta congenita cell strains showed an increased uptake of sulfate, all other cell strains being comparable to the control group. The degradation rate of glycosaminolgycans in mutants as seen by the chase experimentas was comparable to that found in the normal control cell strains. Glucose oxidation was normal in the osteogenesis imperfecta cell strains having an abnormal sulfate uptake. This rules out the possibility of an hypermetabolic state of these cells. These findings do not warrant the use of 35SO4(-2) incorporation in cultured cells as a tool for prenatal diagnosis of osteogenesis imperfecta.

Cells, Cultured↗
PubMed2002

Musculo-skeletal problems associated with pregnancy in women with osteogenesis imperfecta.

Having seen a number of women with osteogenesis imperfecta who developed severe back pain during or just after pregnancy, we wished to determine the likelihood of this and other musculoskeletal problems in pregnancy. We interviewed by telephone 100 women with osteogenesis imperfecta who had, between them, 213 pregnancies between 1957 and 1998. For each pregnancy we recorded the Sillence type for the osteogenesis imperfecta, the mode of delivery and the musculo-skeletal complications. The most common problem was back pain, which was severe in or after 28 pregnancies (13.1%). There was no identifiable relationship to the type of osteogenesis imperfecta or to the mode of delivery. In many cases the back pain could be related to crush fractures of vertebrae. Other problems identified included spinal deformity, non-vertebral fractures, disc problems and ligament problems. We suggest that it may be appropriate to advise the avoidance of long periods of breast feeding in women with OI, particularly in those who have vertebral fractures.

Adolescent↗
PubMed2002

Advances in osteogenesis imperfecta.

Considerable progress has been made in many aspects of osteogenesis imperfecta. The international Sillence classification of osteogenesis imperfecta is being expanded to include a greater range of subgroups of patients. Attempts are being made to identify the genes causing forms of osteogenesis imperfecta and related syndromes that are not caused by mutations of the Type I collagen genes. In medium-term studies, bisphosphonate treatment has been shown to be the first method of treatment to improve the clinical course of the disease significantly. Somatic cell therapy, using allogeneic bone marrow and mesenchymal stromal cell transplantation, are in their early phases of development for use in humans with osteogenesis imperfecta. Somatic gene therapy, which aims to inactivate the mutation, is being evaluated in laboratory and animal studies.

Collagen↗
PubMed1981

The dentition in the osteogenesis imperfecta syndromes.

The deciduous and permanent teeth in some patients with osteogenesis imperfecta syndromes are blue or brown and opalescent. As shown by radiologic examination, the pulp chambers and root canals are completely or partially obliterated by abnormal dentin. The junctions between the crowns and roots are more constricted than normal. Deciduous opalescent teeth lose their enamel readily and wear more easily than normal. Unusual wear does not occur as frequently in permanent opalescent teeth as in deciduous teeth. No relationship has been shown between the number of fractures or deformity and the degree to which the teeth are affected. In contrast, other patients with osteogenesis imperfecta have normal teeth. These clinical differences in the dentitions support the concept of genetic heterogeneity is osteogenesis imperfecta and provide information useful in genetic counseling. The differential diagnosis of opalescent teeth in osteogenesis imperfecta is not difficult provided that detailed clinical and radiologic examinations of the dentition are performed. Patients with osteogenesis imperfecta and opalescent teeth should be evaluated as soon as the deciduous teeth erupt, so that an attempt can be made to prevent loss of tooth structure. However, methods of dental care in osteogenesis imperfecta are not well delineated and deserve further study.

Amelogenesis Imperfecta↗
PubMedDate not supplied

Humeral rodding in osteogenesis imperfecta.

Seven patients with osteogenesis imperfecta who have undergone humeral rodding were reviewed. Satisfactory functional results were obtained in six of seven patients. We discuss the indications for surgery in our unit, the complications, and the results in comparison with those of other centres.

Adolescent↗
PubMed1995

Frontiers in rehabilitation medicine: osteogenesis imperfecta.

This Frontiers in Osteogenesis Imperfecta conference has been organized to foster communication between clinical and laboratory scientists as well as future collaborations. In fact, one of the goals we have had as organizers of this meeting is that new areas of investigation would be fostered. I will attempt to present some of the as yet unanswered clinical questions that I believe are important for this population.

Humans↗
PubMed1990

[Osteogenesis imperfecta, but which one?].

Osteogenesis imperfecta is an heterogeneous group of inherited disorders of type I collagen and of the matrix. Heterogeneity concerns molecular determinism, clinical expression and genetic risk. For the purpose of clinical management, five situations are to be distinguished, according to Sillence classification. Biochemical studies afford a molecular basis for understanding clinical heterogeneity and demonstrate an autosomal dominant transmission in most cases, even the more severe forms.

Collagen↗
PubMed1994

Osteogenesis imperfecta in a family.

Osteogenesis imperfecta (OI) is a rare, inherited condition in which not only the bones are abnormally brittle but also abnormalities in the ligamentous structures, of the eye, ear and skin coexist. Three members of the same family experienced the pathologic fractures with squaring deformity, but no blue sclerae or deafness. They presented with a relatively benign course treated conservatively.

Adult↗
PubMedDate not supplied

The development of the spinal deformities in osteogenesis imperfecta.

Evaluations were made of the spinal deformities in 22 of 30 patients (osteogenesis imperfecta congenita, eight; osteogenesis imperfecta tarda I, 13; osteogenesis imperfecta tarda II, one) treated at Hamagumi Gakuen Children's Hospital from 1959 to 1980. Seven of the congenital type patients were in the severe curve group (greater than 50 degrees), four of whom showed more than 100 degrees of curvature. The spinal deformities in the congenital type progressed rapidly after five years of age and reached a maximum around 12 years of age. The scoliosis in the tarda type patients developed slowly, but then progressed rapidly after the curve exceeded 50 degrees. The complications of the spinal deformities included disability on ambulation, inactivity in daily living, and possibly respiratory dysfunction. Progression of the spinal curvature should be prevented by functional bracing or surgical treatment before severe complications arise.

Adolescent↗
PubMed1983

Prenatal diagnosis of perinatally lethal osteogenesis imperfecta.

Prenatal diagnosis of osteogenesis imperfecta was achieved at 17 weeks of gestation using ultrasound through recognition of low echogenic properties of all the bones, abnormally shaped skull, bell-shaped rib cage, distally thinned ribs, short and deformed long bones, wide metaphyses, and thin diaphyses. Severely limited abnormal movements, abnormal positioning of the lower limbs also were typical of the condition. The recognition of the signs reported in this paper will allow the identification of the condition in utero in the second trimester.

Adult↗