Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
Isabelle SchrauwenHanne ValgaerenLaura Tomás‐RocaManou SommenUmut AltunoğluMieke WesdorpMatthias BeyensErik FransenAbdul NasırGeert VandeweyerAnne SchepersMalika RahmounEllen van BeusekomMatt HuentelmanErwin OffeciersIngeborg DhoogheAlexander HuberPaul Van de HeyningDiego ZanettiEls De LeenheerChristian GilissenAlexander HoischenCor W. R. J. CremersBerit M. VerbistArjan P.M. de BrouwerGeorge W. PadbergRonald J. E. PenningsHülya KayseriliHannie KremerGuy Van CampHans van Bokhoven
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Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.
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The central corneal thickness was measured in 53 patients with osteogenesis imperfecta. The average thickness was found to be 0.443 ± 0.003 (SEM) mm. This value was significantly lower than the central corneal thickness in 35 patients with otosclerosis (0.515 ± 0.004 mm) and in 35 sex- and age-matched normal control subjects (0.522 ± 0.004 mm). No difference in corneal thickness between otosclerosis and controls was observed. Measurements of the central corneal thickness may be of great value in the diagnosis of osteogenesis imperfecta.
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Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.
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Osteogenesis imperfecta is a hereditary disorder of connective tissues characterised by low bone mass and bone fragility. Previous studies demonstrated that cyclical pamidronate therapy is effective in increasing bone density and improving clinical outcomes in children with osteogenesis imperfecta. We report our experience in treating two children with cyclical intravenous pamidronate infusion. The benefits and problems of the treatment are discussed.
Osteochondrodysplasia
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Study of 16 patients with Type III osteogenesis imperfecta showed marked elongation of the pedicles of the vertebrae in all cases, a deformity which was not seen in other types of the disease. Posterior rib angulation was also noted in Type III disease. These features have proved useful in suggesting the diagnosis of osteogenesis imperfecta even before long bones have fractured and in categorizing patients with osteogenesis imperfecta into the correct type for prognostic purposes.
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Osteogenesis imperfecta (OI) designates a heterogeneous group of heritable disorders of connective tissue that in addition to bone may affect tendons, ligaments, fascia, skin, sclerae, blood vessels, teeth, and hearing. The current classification identifies at least four major syndrome groups or types. It also recognizes a considerable number of additional syndromes that may represent supplementary types or subgroups. Loss of hearing is the least constant of the prominent features of OI. Its incidence varies between 26% and 60%. In OI, formation and remodelling of bone are variously affected. In the temporal bone the development of the inner ear capsule may be involved severely. In the stapes the disturbance in lamellar bone formation can lead to extreme thinness, dehiscence, and nonunion of the stapedial superstructure with the footplate. Osteogenesis imperfecta can be associated with otosclerosis, another bone dysplasia with a different morphology. Otosclerosis, in turn, may interfere with sound conduction and perception. Thus, the hearing loss encountered in OI may be the result of OI, otosclerosis, or a combination of both.
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This chapter discusses osteogenesis imperfecta and other disorders with decreased bone density and includes discussion on osteogenesis imperfecta itself, osteogenesis imperfecta (type I), osteogenesis imperfecta (type IIA), osteogenesis imperfecta (type IIC), osteogenesis imperfecta (type III/IIB), osteogenesis imperfecta (type IV), osteogenesis imperfecta (type V), idiopathic juvenile osteoporosis, Bruck syndrome, Cole-Carpenter syndrome, Stüve-Wiedemann syndrome, osteoporosis-pseudoglioma syndrome, spondyloocular dysplasia, geroderma osteodysplasticum, calvarial doughnut lesions-osteoporosis syndrome, and gnathodiaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
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AbstractThe possibility of a common aetiology of otosclerosis and osteogenesis imperfecta is discussed. The histopathological differences in two temporal bones, one with osteogenesis imperfecta congenita and one with co-existing osteogenesis imperfecta tarda and otosclerosis, are emphasized. On the basis of the methods currently used it cannot be confirmed, that otosclerosis and osteogenesis imperfecta have a common aetiology.
Etiology
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