Results 161 to 170 of about 1,058,904 (200)

Sclerosing Bone Dysplasias With Involvement of the Craniofacial Skeleton

Bone, 2014
In this review we provide a complete overview of the existing sclerosing bone dysplasias with craniofacial involvement. Clinical presentation, disease course, the craniofacial symptoms, genetic transmission pattern and pathophysiology are discussed. There is an emphasis on radiologic features with a large collection of CT and MRI images.
Robert Stokroos, Wim Van Hul
exaly   +6 more sources

Sclerosing Bone Dysplasias: Leads Toward Novel Osteoporosis Treatments [PDF]

Current Osteoporosis Reports, 2014
Sclerosing bone dysplasias are a group of rare, monogenic disorders characterized by increased bone density resulting from the disturbance in the fragile equilibrium between bone formation and resorption. Over the last decade, major contributions have been made toward better understanding of the pathogenesis of these conditions.
Geert Mortier, Igor Fijalkowski, Wim Van Hul   +2 more
exaly   +4 more sources

Sclerosing Bone Dysplasias — A Target-Site Approach

Skeletal Radiology, 1991
Sclerosing bone dysplasias are a poorly understood group of developmental anomalies, much of whose etiology is still obscure. The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schönberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve ...
Adam Greenspan
exaly   +3 more sources

A new lethal sclerosing bone dysplasia

Skeletal Radiology, 1991
A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology.
H M, Kingston, J S, Freeman, C M, Hall
openaire   +2 more sources

Molecular and Radiological Diagnosis of Sclerosing Bone Dysplasias

European Journal of Radiology, 2001
Bone mineral density (BMD) is a quantitative trait for which the heritability of the variance is estimated to be up to 80%, based on epidemiological and twin studies. Further illustration of the involvement of genetic factors in bone homeostasis, is the existence of an extended group of genetic conditions associated with an abnormal bone density.
Katrien Janssens, Wim Van Hul, Wendy Balemans   +2 more
exaly   +4 more sources

Mixed Sclerosing Bone Dysplasia—A Case Report With Literature Review

Clinical Imaging, 2003
We report a case of mixed sclerosing bone dysplasia in a 26-year-old man. This is a very rare disorder characterized by a variable combination of melorheostosis, osteopoikilosis and osteopathia striata. The disease may be generalized or may show unilateral involvement.
Sangeet Ghai, Sandeep Ghai
exaly   +3 more sources

Recurrent Sclerosing Dysplasia of Bone: Report of a Case

Journal of Oral and Maxillofacial Surgery, 2008
a c d D enetic disorders of bone homeostasis are uncomon; however, knowledge of their clinical features nd management are important for the maxillofacial urgeon. A variety of genetic abnormalities may give ise to excessive bone. The pathogenic mechanisms nderlying these conditions include: disorders of one resorption (eg, osteopetrosis), excessive bone
Batstone, Martin Druce, Walton, Gary, Lynham, Anthony, Monsour, Frank, Balemans, Wendy, Van Hu, Wim   +5 more
openaire   +6 more sources

Mixed Sclerosing Bone Dysplasia Coexisting With Dysplasia Epiphysealis Hemimelica (Trevor-Fairbank Disease)

Skeletal Radiology, 1986
The coexistence of mixed sclerosing bone dysplasia and dysplasia epiphysealis hemimelica is a rare anomaly. This combination of abnormalities has not been previously reported. The clinical, radiographic, and pathologic features of this condition are discussed and the methods of treatment of articular complications are reviewed.
Adam Greenspan, Alex Norman, A Norman
exaly   +3 more sources

Lessons from Sclerosing Bone Dysplasias

Hormone Research in Paediatrics, 2007
<i>Background:</i> Bone mineral density (BMD) is influenced by both genetic and environmental factors. The role of genetic factors in bone homeostasis is clearly illustrated by a group of genetic conditions associated with abnormal BMD. These conditions are often monogenic, caused by mutations in one gene.
openaire   +3 more sources

Sclerosing Bone Dysplasias: Review and Differentiation From Other Causes of Osteosclerosis [PDF]

Radiographics, 2011
Sclerosing bone dysplasias are skeletal abnormalities of varying severity with a wide range of radiologic, clinical, and genetic features. Hereditary sclerosing bone dysplasias result from some disturbance in the pathways involved in osteoblast or osteoclast regulation, leading to abnormal accumulation of bone.
George R. Matcuk, Dakshesh B Patel, Eric A White   +2 more
exaly   +3 more sources