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Sclerosing bone dysplasias: neurologic assessment and management
Current Opinion in Otolaryngology & Head and Neck Surgery, 2004Sclerosing bone dysplasias are rare genetic disorders of bone remodeling in which excessive bone formation takes place, resulting in encroachment on neural structures. The infant usually appears normal at birth, and the first sign of a problem only comes when a neurologic deficit develops, usually in the form of an acute facial palsy.
Louis M, Hofmeyr, Herman, Hamersma
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The Role of Sclerostin in the Pathophysiology of Sclerosing Bone Dysplasias
Clinical Reviews in Bone and Mineral Metabolism, 2011In the last decade, osteocyte-produced sclerostin has emerged as a key regulator of bone remodeling. Sclerostin inhibits bone formation and may also stimulate bone resorption. Impaired sclerostin synthesis leads to generalized hyperostosis, particularly of the skull bones, in patients with sclerosteosis and van Buchem disease due to unrestrained bone ...
A. H. van Lierop +4 more
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American Journal of Medical Genetics, Part A, 1995
AbstractWe present a 40‐year‐old man with mental retardation, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with melorheostosis (mixed sclerosing bone dysplasia, MSBD). Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by fluorescence in situ hybridization (FISH) of fibroblast cells. To our
Margot I van Allen, M I van Allen
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AbstractWe present a 40‐year‐old man with mental retardation, short stature, minor anomalies, and seizures, who was found to have osteopoikilosis with melorheostosis (mixed sclerosing bone dysplasia, MSBD). Cytogenetic findings of a low level trisomy 8 mosaicism were not confirmed by fluorescence in situ hybridization (FISH) of fibroblast cells. To our
Margot I van Allen, M I van Allen
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Exome Sequencing Reveals a Mutation in DMP1 in a Family With Familial Sclerosing Bone Dysplasia
Bone, 2014Hypophosphatemic rickets (HR) comprises a rare group of inherited diseases. Very recently, mutations in the dentin matrix protein 1 (DMP1) gene were identified in patients with an extremely rare autosomal recessive form of HR (ARHR). To date, very few cases of these mutations were reported.A Lebanese consanguineous family with 2 affected sisters was ...
Marie-Hélène Gannagé-Yared +2 more
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Osteopetrosis and Other Sclerosing Bone Dysplasias
1978Increased bone density, with or without abnormal modeling, is a feature of a number of uncommon disorders of the neonate. The “precocious” or “malignant” form of osteopetrosis is the best known of these, but pycnodysostosis and sclerosteosis can also be recognized in early infancy.
Bryan J. Cremin, Peter Beighton
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Too Much Bone: The Middle Ear in Sclerosing Bone Dysplasias
2007The middle ear changes in Sclerosteosis and Van Buchem disease are described. Reduced bone resorption occurs due to faulty activity of the sclerostin molecule, a product of the recently discovered SOST gene in chromosome 17. Syndactyly draws attention to scleroteosis, and a conductive hearing loss develops before age six in both conditions.
Herman, Hamersma, Louis, Hofmeyr
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American Journal of Medical Genetics, 1998
Sclerosing bone dysplasias are diagnosed on the basis of a characteristic pattern of osteosclerosis and clinical manifestations; in many of them, cause and pathogenesis are still unknown. A 33-year-old man had five fractures of the humerus, tibiae, and femur as a result of mild traumatic incidents that occurred between the ages of 18 and 33 years as ...
K, Nakamura, Y, Nakada, D, Nakada
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Sclerosing bone dysplasias are diagnosed on the basis of a characteristic pattern of osteosclerosis and clinical manifestations; in many of them, cause and pathogenesis are still unknown. A 33-year-old man had five fractures of the humerus, tibiae, and femur as a result of mild traumatic incidents that occurred between the ages of 18 and 33 years as ...
K, Nakamura, Y, Nakada, D, Nakada
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Recent progress in the molecular genetics of sclerosing bone dysplasias
Pediatric Pathology & Molecular Medicine, 2003Bone mineral density is a quantitative trait influenced by both genetic and environmental factors. Epidemiological and twin studies have shown heritability for the variance of bone density of up to 80%. The role of genetic factors in bone homeostasis also is clearly illustrated by the existence of an extended group of genetic conditions associated with
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Radiographic findings in hereditary sclerosing bone dysplasias with endochondral ossification.
2019Learning objectives Background Findings and procedure details Conclusion Personal information ...
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