Results 141 to 150 of about 12,756 (179)
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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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Osteogenesis imperfecta and odontogenesis imperfecta
Oral Surgery, Oral Medicine, Oral Pathology, 1949Abstract A review of the pertinent literature is presented. Conspicuous by its absence is any record of a fracture of a mandible or maxilla. A family of 13, 5 members of which are afflicted with osteogenesis imperfecta and 2 spontaneous recent mutations, are reported.
G R, WINTER, P D, MAIOCCO
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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.
M R, Stoltz +2 more
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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.
M R, Stoltz +2 more
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The Journal of Bone & Joint Surgery, 1973
Sixteen patients, eight severely affected (osteogenesis imperfecta congenita), seven moderately (osteogenesis imperfecta tarda), and one mildly (no bone deformity) had iliac-crest biopsy specimens analyzed quantitatively to determine number of osteocytes, fractional areas of bone, length of resorption surface, and other histological parameters per area
K A, Falvo, P G, Bullough
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Sixteen patients, eight severely affected (osteogenesis imperfecta congenita), seven moderately (osteogenesis imperfecta tarda), and one mildly (no bone deformity) had iliac-crest biopsy specimens analyzed quantitatively to determine number of osteocytes, fractional areas of bone, length of resorption surface, and other histological parameters per area
K A, Falvo, P G, Bullough
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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
Terry R, Yochum +2 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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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.
Nadja, Fratzl-Zelman +3 more
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Otosclerosis and Osteogenesis Imperfecta
Archives of Otolaryngology - Head and Neck Surgery, 1969The 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.
P, Bretlau, M, Balsley-Jorgensen
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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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