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Osteogenesis imperfecta  [cached]
Gupte Tejashri,Iyer V,Damle S,Malik N
Journal of the Indian Society of Pedodontics and Preventive Dentistry , 2006,
Abstract: Osteogenesis imperfecta is an inherited disorder of the connective tissue. The extreme bone fragility seen in patients suffering from osteogenesis imperfecta pose a series of problems with regard to behavior management and rendering of quality dental treatment. Presented here a case of a four year old child suffering from osteogenesis imperfecta.
Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta  [PDF]
I. Mouna Ben Amor,Francis H. Glorieux,Frank Rauch
Journal of Osteoporosis , 2011, DOI: 10.4061/2011/540178
Abstract: Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is based on findings in a large single-centre OI population and a review of the literature. 1. Introduction Osteogenesis imperfecta [1] is a heritable skeletal disorder characterized by bone fragility and often short stature. Extraskeletal features include blue sclerae, dentinogenesis imperfecta (DI), and a variable degree of postpubertal hearing loss. The spectrum of clinical severity is wide, ranging from nearly asymptomatic individuals with a mild predisposition to fractures, normal stature and normal lifespan, to severe bone deformities, mobility impairments, and very short stature to perinatal lethality [2]. Classically four types of OI are distinguished, as described by Sillence et al. in 1979 [3]. This classification is based on clinical features. OI type I is the mildest form. Patients usually have normal or slightly short stature with straight long bones and blue sclerae. DI is infrequent in this type. The main clinical issue in OI type I concerns the spine, where vertebral compression fractures can lead to mild scoliosis. OI type II is usually lethal during the perinatal period, with in utero onset of severe long-bone deformities and rib fractures that lead to respiratory compromise and eventually death. OI type III is the most severe form of OI that is compatible with life. Patients have severe short stature and severe long bone deformities, with reduced mobility. They typically have DI and blue sclera. Scoliosis can lead to fatal respiratory compromise. OI type IV is a moderately severe form of OI with multiple fractures, mild to moderate bone deformities, and variable short stature. Sclerae in this type are white or grey and DI is not a constant feature. Even though this classification is widely used, it is somewhat subjective in nature and depends on the amount of information that is available at any given time. For example, it can occur that a fetus is diagnosed with OI type II, the lethal form, on prenatal ultrasound, but after birth turns out to be less severely affected than initially thought and is eventually reclassified as OI type III or even type VI, if adequate management is initiated early on. In fact, the aim of current multidisciplinary
Treatment Concepts of Osteogenesis Imperfecta  [cached]
Ramji Lal Sahu
Zahedan Journal of Research in Medical Sciences , 2012,
Abstract: Background: To explore the Application of the intramedullary nails for correction of deformity in the lower limbs and decrease the opportunity of refractures in children with osteogenesis imperfecta.Materials and Methods: From July 2005 to July 2009, 11 patients (5 males and 6 females), were recruited from Emergency and outpatient department having deformities of osteogenesis imperfecta in lower limbs. With 3 femurs and 5 tibias with deformity in lower limps were corrected by multiosteotomy and fixed with intramedullary interlocking nails, 6 (3 femurs and 3 tibias) for Rush nails; 6 (2 femurs and 4 tibias) for Ender nails; and 12 (6 femurs and 6 tibias) for flexible intramedullary nails. All patients were operated under general or spinal anesthesia. Results: All deformities were perfectly corrected. All patients were available at final follow up, for 9 months to 36 months, mean 18 months. 2 patients had delayed union, 2 had superficial infection in the incision or pin tract, and 1 had refractures postoperatively. The results were excellent in 72.727% and good in 27.272% patients. Conclusion: Multiosteotomy and fixed intramedullary nails can correct the deformity in the lower limbs perfectly and decrease the opportunity of refractures in children with osteogenesis imperfecta, which has been proved to be a reliable method.
Carotid Artery Prolapse and Myringocarotidopexy in Osteogenesis Imperfecta  [PDF]
Hassanin Abdulkarim, Hassan Haidar, Ahmad Abualsoud, Ahmed Elsotouhy, A. Salam Alqahtani
International Journal of Otolaryngology and Head & Neck Surgery (IJOHNS) , 2015, DOI: 10.4236/ijohns.2015.44049
Abstract: Osteogenesis Imperfecta is a rare genetic disorder of connective tissue that is caused by an error in collagen formation. The disease is characterized by abnormal bone fragility, osteopenia, blue discoloration of the sclerae and hearing loss. Chronic non-suppurative otitis media is frequent in Osteogenesis Imperfecta patients and usually attributed to Eustachian tube dysfunction due to cranial molding and deformities. In some cases of severe Osteogenesis Imperfecta, the fragile bone of the petrous carotid canal can be broken down by the pulsations of the carotid artery, this may result in prolapse of the carotid artery into the protympanum with resultant Eustachian tube obstruction and tympanic membrane retraction with adhesion to prolapsed carotid artery, a condition called myringocarotidopexy.
Metaphyseal bands in osteogenesis imperfecta  [cached]
Suresh S,Thomas John
Indian Journal of Radiology and Imaging , 2010,
Abstract: An increasing number of patients with osteogenesis imperfecta are undergoing pamidronate therapy to prevent the incidence of fragility fractures. The authors herein report a child aged 3 years who received five cycles of pamidronate, resulting in metaphyseal bands, known as "zebra lines."
Perinatal lethal osteogenesis imperfecta
S Moosa
South African Journal of Radiology , 2012,
Abstract: Osteogenesis imperfecta (OI) is a heterogeneous group of genetic bone disorders that are characterised by decreased bone mass, increased bone fragility and susceptibility to fractures. The severe, perinatal lethal form (Type II) (OMIM 166210) is characterised by bone fragility, with perinatal fractures, severe bowing of long bones, undermineralisation, and death in the perinatal period owing to respiratory insufficiency. The overall prevalence of OI Type II is unknown. There are three subtypes of OI Type II (A, B and C) that are characterised by different radiological features, and may be caused by different genetic faults. Two fetuses with OI Type IIA are presented.
Osteogenesis Imperfecta in Pregnancy: Case Report
Maryam Rabiee,Mahin Rasi Etemadi
Journal of Family and Reproductive Health , 2011,
Abstract: Osteogenesis imperfecta is a rare inherited Connective tissue disorder with an expression that varies from mild to severe disease affecting bone, Sclera and middle ear. Fertility is preserved, especially in those patients with type 1. We present hereby a pregnant woman with Osteogenesis imperfecta that had over 30 fractures in long bones and vertebrae. The object of this report was to determine choice of delivery method, maternal and neonatal Complications and prenatal diagnosis.
Current and emerging treatments for the management of osteogenesis imperfecta  [cached]
Elena Monti,Monica Mottes,Paolo Fraschini,et al
Therapeutics and Clinical Risk Management , 2010,
Abstract: Elena Monti1, Monica Mottes1, Paolo Fraschini2, PierCarlo Brunelli3, Antonella Forlino4, Giacomo Venturi1, Francesco Doro1, Silvia Perlini1, Paolo Cavarzere1, Franco Antoniazzi11Department of Life Sciences and Reproduction, Pediatric Clinic University of Verona, Verona, Italy; 2Istituto Di Ricovero e Cura a Carattere Scientifico, ‘E. Medea’, Associazione La Nostra Famiglia, Bosisio Parini (LC), Italy; 3Divisione di Ortopedia Pediatrica, Spedali Civili, Brescia, Italy; 4Department of Biochemistry “A. Castellani”, University of Pavia, ItalyAbstract: Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth disorder. Clinical severity varies widely; nowadays eight types are distinguished and two new forms have been recently described although not yet classified. The approach to such a variable and heterogeneous disease should be global and therefore multidisciplinary. For simplicity, the objectives of treatment can be reduced to three typical situations: the lethal perinatal form (type II), in which the problem is survival at birth; the severe and moderate forms (types III–IX), in which the objective is ‘autonomy’; and the mild form (type I), in which the aim is to reach ‘normal life’. Three types of treatment are available: non-surgical management (physical therapy, rehabilitation, bracing and splinting), surgical management (intramedullary rod positioning, spinal and basilar impression surgery) and medical-pharmacological management (drugs to increase the strength of bone and decrease the number of fractures as bisphosphonates or growth hormone, depending on the type of OI). Suggestions and guidelines for a therapeutic approach are indicated and updated with the most recent findings in OI diagnosis and treatment.Keywords: osteogenesis imperfecta, bone genetic disorder, bone brittleness, “brittle bone disease”, connective tissue malfunction, short stature, progressive skeletal deformities, blue sclerae, dentinogenesis imperfecta, joint laxity, adult onset deafness
Osteogenesis imperfecta - Clinical and molecular diversity  [cached]
Roughley P. J.,Rauch F.,Glorieux F. H.
European Cells and Materials (ECM) , 2003,
Abstract: 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.
Severe osteogenesis imperfecta: case report  [PDF]
Fernando Bastos,Liliana Thaureaux Perez,Caridad Ponce de León Narváes,Olívia Costa
Einstein (S?o Paulo) , 2010,
Abstract: The authors present a case of Osteogenesis Imperfecta, emphasizing the clinical and epidemiological characteristics, forms of classification and treatment of the disease. This is an important case not only to the knowledge of pediatricians and orthopedists, but also for other professionals involved with the problem. This article has been jointly described by the Departments of Pediatrics and Neonatology of the Girassol Clinic in Luanda Capital of the Republic of Angola, Africa.
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