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Archives of Physical Medicine and... Dec 1998Osteogenesis imperfecta (OI) is a skeletal disorder of remarkable clinical variability characterized by bone fragility, osteopenia, variable degrees of short stature,... (Review)
Review
Osteogenesis imperfecta (OI) is a skeletal disorder of remarkable clinical variability characterized by bone fragility, osteopenia, variable degrees of short stature, and progressive skeletal deformities. Additional clinical manifestations such as blue sclerae, dentinogenesis imperfecta, joint laxity, and maturity onset deafness are described in the literature. OI occurs in about 1 in 20,000 births and is caused by quantitative and qualitative defects in the synthesis of collagen I. Depending on the severity of the disease, a large impact on motor development, range of joint motion, muscle strength, and functional ability may occur. Treatment strategies should primarily focus on the improvement of functional ability and the adoption of compensatory strategies, rather than merely improving range of joint motion and muscle strength. Surgical treatment of the extremities may be indicated to stabilize the long bones to optimize functional ability and walking capacity. Surgical treatment of the spine may be indicated in patients with progressive spinal deformity and in those with symptomatic basilar impression.
Topics: Activities of Daily Living; Age Factors; Child; Child Development; Humans; Motor Skills; Osteogenesis Imperfecta; Range of Motion, Articular; Severity of Illness Index; Walking
PubMed: 9862306
DOI: 10.1016/s0003-9993(98)90426-9 -
Journal of Veterinary Diagnostic... May 2022We examined the clinical features and pathology, and identified the causative mutation, of osteogenesis imperfecta in a 2-mo-old kitten with growth retardation and...
We examined the clinical features and pathology, and identified the causative mutation, of osteogenesis imperfecta in a 2-mo-old kitten with growth retardation and abnormal gait. Blood and radiographic examinations were performed on presentation. Radiographs revealed decreased opacity of numerous bones. Fractures were observed in some long bones, including femur and tibia. Histologic examination of the tibia showed decreased osteoid and osteoblasts at the primary spongiosa extending from the growth plate. The periosteum was thickened, and cortical bone and osteoblasts were decreased. Consequently, osteogenesis imperfecta was diagnosed. Genomic DNA and total RNA were extracted from the skin and used for PCR. Whole-genome sequencing identified a 2-bp deletion (c.370_371delTG; p.C124fs), which resulted in a homozygous frameshift mutation on exon 3 of . This mutation introduced a premature stop codon, suggesting production of the truncated protein without a functional domain as a transcription factor for expression of mRNA. This error may have affected collagen fibril formation, leading to the development of osteogenesis imperfecta.
Topics: Animals; Bone and Bones; Cat Diseases; Cats; Female; Mutation; Osteogenesis Imperfecta; Polymerase Chain Reaction
PubMed: 35168412
DOI: 10.1177/10406387221081227 -
Nederlands Tijdschrift Voor Geneeskunde 2012Osteogenesis imperfecta is a hereditary connective tissue disorder characterized primarily by fractures with no or small causal antecedent; in most patients this is a... (Review)
Review
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 and radiology. It is also a genetically heterogeneous disorder; 90% of cases are due to autosomal dominant mutations, while the remaining 10% are due to autosomal recessive mutations or of unknown cause. Osteogenesis imperfecta type I and to a lesser extent type IV are important differential diagnostic considerations in case of suspicion of non-accidental injury (NAI). When osteogenesis imperfecta is suspected, DNA analysis of the dominant COL1A1 and COL1A2 genes is currently the starting point for laboratory diagnosis unless there are strong indications for a recessive cause. Protein analysis based on skin biopsy remains indicated in specific cases.
Topics: Collagen Type I; DNA Mutational Analysis; Humans; Osteogenesis Imperfecta
PubMed: 22617071
DOI: No ID Found -
Joint Bone Spine Mar 2001Osteogenesis imperfecta is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone... (Review)
Review
Osteogenesis imperfecta is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. The classification of osteogenesis imperfecta has recently been improved by the inclusion of additional clinical and histomorphometric data. The diagnosis is often readily made in infancy; some cases, however, go unrecognized until adulthood. Lifelong multidisciplinary management is imperative. Pamidronate therapy in childhood is the most extensively studied treatment and has been proved beneficial. Other bisphosphonates are being evaluated, particularly in adults. Prevention of vitamin D and calcium deficiency is essential throughout life. Pain is common and should be given adequate attention.
Topics: Adult; Diphosphonates; Humans; Long-Term Care; Osteogenesis Imperfecta
PubMed: 11324928
DOI: 10.1016/s1297-319x(01)00256-1 -
Nursing Standard (Royal College of...Osteogenesis imperfecta (brittle bone disease) is a rare hereditary disorder with an increased tendency to fracture. Chris Clark highlights the management needs of... (Review)
Review
Osteogenesis imperfecta (brittle bone disease) is a rare hereditary disorder with an increased tendency to fracture. Chris Clark highlights the management needs of people with this condition.
Topics: Adult; Child; Fractures, Bone; Humans; Incidence; Infant, Newborn; Needs Assessment; Nurse's Role; Osteogenesis Imperfecta; Patient Transfer; Prevalence; Risk Factors; United Kingdom
PubMed: 11977799
DOI: 10.7748/ns2001.10.16.5.47.c3100 -
Journal of Medical Genetics Jul 1991
Review
Topics: Alleles; Amino Acid Sequence; Chromosome Deletion; Collagen; DNA Mutational Analysis; Exons; Frameshift Mutation; Gene Expression Regulation; Genes; Genes, Lethal; Humans; Molecular Sequence Data; Mutation; Osteogenesis Imperfecta; Phenotype; Procollagen; Protein Conformation
PubMed: 1895312
DOI: 10.1136/jmg.28.7.433 -
Clinics in Rheumatic Diseases Dec 1986It is now virtually certain that the brittle bone syndrome results from a variety of mutations in the alpha chains of type I collagen. Whilst the increasing biochemical... (Review)
Review
It is now virtually certain that the brittle bone syndrome results from a variety of mutations in the alpha chains of type I collagen. Whilst the increasing biochemical knowledge makes prenatal diagnosis sometimes possible, the care of those with severe physical disability still provides a clinical challenge which is not always met. Future research in this disease therefore needs to be clinical as well as biochemical.
Topics: Collagen; Genetic Counseling; Humans; Osteogenesis Imperfecta; Prenatal Diagnosis; Prognosis; Radiography
PubMed: 3078778
DOI: No ID Found -
American Journal of Medical Genetics.... Dec 2015Although non-accidental injuries (NAI) are more common in cases of unexplained fractures than rare disorders such as osteogenesis imperfecta (OI), ruling out OI and... (Review)
Review
Although non-accidental injuries (NAI) are more common in cases of unexplained fractures than rare disorders such as osteogenesis imperfecta (OI), ruling out OI and other medical causes of fracture is always indicated. The majority of OI patients can be diagnosed with the help of family history, physical examination, and radiographic findings. In particular, there are a few radiological findings which are seen more commonly in NAI than in OI which may help guide clinician considerations regarding the probability of either of these diagnoses. At the same time, molecular testing still merits careful consideration in cases with unexplained fractures without obvious additional signs of abuse.
Topics: Child; Child Abuse; Diagnosis, Differential; Fractures, Bone; Humans; Osteogenesis Imperfecta; Radiography; Wounds and Injuries
PubMed: 26492946
DOI: 10.1002/ajmg.c.31463 -
Clinical Orthopaedics and Related... May 1989Osteogenesis imperfecta is a heterogenous group of inherited conditions arising from a variety of biochemical and morphological collagen defects. The broad... (Review)
Review
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.
Topics: Child; Child, Preschool; Combined Modality Therapy; Genetic Counseling; Humans; Infant; Infant, Newborn; Orthopedics; Osteogenesis Imperfecta; Radiography; Research
PubMed: 2650946
DOI: No ID Found -
European Cells & Materials Jun 2003Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical... (Review)
Review
Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical severity, ranging from multiple fracturing in utero and perinatal death to normal adult stature and a low fracture incidence. The disorder is currently classified into seven types based on differences in clinical presentation and bone architecture. Mutation in one of the type I collagen genes is commonly associated with osteogenesis imperfecta, but is not a prerequisite for the diagnosis. Indeed, the newer forms of osteogenesis imperfecta (types V, VI and VII) are not associated with type I collagen gene defects. Amongst the type I collagen gene mutations that can occur, missense base substitutions involving glycine codons in the exons encoding the central triple-helix forming domain predominate. Such mutations can occur in all the classical forms of osteogenesis imperfecta (types I-IV), but genotype/phenotype correlations are complex and often unpredictable. Treatment of osteogenesis imperfecta by bisphosphonate therapy can improve bone mass in all types of the disorder, and while not being a cure for the disorder does improve the quality of life of the patient.
Topics: Genetic Variation; Humans; Mutation, Missense; Osteogenesis Imperfecta
PubMed: 14562271
DOI: 10.22203/ecm.v005a04