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Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 2007
Osteogenesis imperfecta is a relatively common hereditary connective tissue disorder characterized by bone fragility and fractures. Other frequently affected tissues include tendons, ligaments, skin, sclera, teeth, and middle and inner ear. Molecular studies have demonstrated that most cases result from mutations affecting the genes responsible for the
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Osteogenesis imperfecta is a relatively common hereditary connective tissue disorder characterized by bone fragility and fractures. Other frequently affected tissues include tendons, ligaments, skin, sclera, teeth, and middle and inner ear. Molecular studies have demonstrated that most cases result from mutations affecting the genes responsible for the
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Clinical Orthopaedics and Related Research, 1989
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.
Stoltz Mr, Dietrich Sl, Marshall Gj
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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.
Stoltz Mr, Dietrich Sl, Marshall Gj
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Current Opinion in Pediatrics, 1997
In the past 20 years, tremendous strides have been made in our understanding of the biochemical and genetic abnormalities associated with osteogenesis imperfecta (OI). Prenatal diagnostic techniques have allowed early detection of this disorder, particularly in families in which the actual molecular defect is already known.
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In the past 20 years, tremendous strides have been made in our understanding of the biochemical and genetic abnormalities associated with osteogenesis imperfecta (OI). Prenatal diagnostic techniques have allowed early detection of this disorder, particularly in families in which the actual molecular defect is already known.
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The Indian Journal of Pediatrics, 1958
An infant, four months old with multiple fractures of long bones and blue sclera is reported. The disease, osteogenesis imperfecta, is quite a rare entity.
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An infant, four months old with multiple fractures of long bones and blue sclera is reported. The disease, osteogenesis imperfecta, is quite a rare entity.
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Osteogenesis imperfecta in a weightlifter
Journal of Manipulative and Physiological Therapeutics, 2002To discuss the case of a 42-yr-old weightlifter with osteogenesis imperfecta.The patient had bilateral acute elbow pain and a previous history of more than 35 fractures of the spine and extremities.There is no current treatment for osteogenesis imperfecta. Treatment objectives were designed to minimize pain, improve range of motion, and decrease stress
Richard E. Seibert +2 more
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Classification of osteogenesis imperfecta
Wiener Medizinische Wochenschrift, 2015Osteogenesis imperfecta (OI) is an extremely heterogeneous group of heritable connective tissue disorders. Most of the affected patients carry autosomal dominant mutations in the genes encoding for collagen type I, the most abundant protein of the bone extracellular matrix.
Barbara M. Misof +3 more
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Osteogenesis Imperfecta in the Neonate
Advances in Neonatal Care, 2008Osteogenesis imperfecta is a rare heterozygous disorder of collagen production. It is characterized by osteopenia, blue sclera, bone deformities, and progressive hearing loss. Some infants are diagnosed prenatally, whereas others are diagnosed much later in life.
Lorraine Hackley, Linda Merritt
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OSTEOGENESIS IMPERFECTA CONGENITA
Journal of Paediatrics and Child Health, 1971SynopsisOsteogenesis imperfecta congenita is a very rare condition. Among 184,311 deliveries over a 5 year period (1965–1969) there were encountered only 3 cases which demonstrated varying degrees of severity of the condition.The incidence, pathological and genetic bases, diagnosis and management of osteogenesis imperfecta congenita are discussed.
K. L. Tan, E. P. C. Tock
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The ear in osteogenesis imperfecta
The Laryngoscope, 1962AbstractA review of the pertinent historical, clinical, pathological and otologic features of osteogenesis imperfecta is presented. A study of the genetic aspects of the Van der Hoeve Syndrome supports the view that the disease results from one gene or gene complex with wide variations in expressivity.
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