Results 241 to 250 of about 385,840 (284)
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Anthropometry in Skeletal Dysplasia
Journal of Pediatric Endocrinology and Metabolism, 1994Skeletal dysplasia or osteochondrodysplasia is the designation of more than 200 different disorders, that are characterized by abnormalities of the skeleton, disproportional short stature, and a variety of other problems. The underlying biochemical defect is unknown in the vast majority of skeletal dysplasias, and the diagnosis is based on radiological
N T, Hertel, J, Müller
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The British Journal of Radiology, 1948
A case of associated maldevelopment of cranium and extremities with spinal osteoporosis is described and discussed.
N, HAJDU, R, KAUNTZE
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A case of associated maldevelopment of cranium and extremities with spinal osteoporosis is described and discussed.
N, HAJDU, R, KAUNTZE
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Annals of the New York Academy of Sciences, 2007
Abstract: The skeletal dysplasias or osteochondrodysplasias are a clinically and genetically heterogeneous group of disorders of bone and/or cartilage. They are characterized by abnormalities in pattering, linear growth, differentiation, and maintenance of the human skeleton. While they have been considered to be generalized disorders of endochondral
ALANAY, Yasemin +5 more
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Abstract: The skeletal dysplasias or osteochondrodysplasias are a clinically and genetically heterogeneous group of disorders of bone and/or cartilage. They are characterized by abnormalities in pattering, linear growth, differentiation, and maintenance of the human skeleton. While they have been considered to be generalized disorders of endochondral
ALANAY, Yasemin +5 more
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Approach to Skeletal Dysplasia
Pediatric Clinics of North America, 1992The mystique of skeletal dysplasias is gradually vanishing. Many more physicians are being taught about disorders of disproportionate shortness. The classification system is more practical, and the genetics of these individually uncommon disorders is better established.
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American Journal of Medical Genetics, Part A, 2012 Heterozygous missense mutations of transient receptor potential vanilloid 4 channel (TRPV4) cause a spectrum of skeletal disorders, including brachyolmia, spondylometaphyseal dysplasia Kozlowski type, metatropic dysplasia, parastremmatic dysplasia, and ...
Tae-Joon Cho, Shiro Ikegawa
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Skeletal Dysplasias: An Overview
2015Constitutional disorders of bone, commonly termed skeletal dysplasias (SDs), are inherited disorders of cartilage and/or bone that affect their growth, morphometry and integrity. Associated skeletal abnormalities are usually but not invariably symmetrical.
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Magnetic Resonance Imaging Clinics of North America
Skeletal dysplasias (SDs) are a diverse group of genetic disorders. Diagnosis can be difficult as many are rare and with varied presentations, but with knowledge of the most common SDs presenting prenatal and with an algorithm that uses both sonographic and MR imaging techniques, directed genetic testing and counseling can be provided for many families.
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Skeletal dysplasias (SDs) are a diverse group of genetic disorders. Diagnosis can be difficult as many are rare and with varied presentations, but with knowledge of the most common SDs presenting prenatal and with an algorithm that uses both sonographic and MR imaging techniques, directed genetic testing and counseling can be provided for many families.
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2019
Abstract This chapter reviews the more common viable skeletal dysplasias. The disorders discussed here include the less severe type II collagenopathies, spondyloepiphyseal dysplasia and Kniest dysplasia. The many types of chondrodysplasia punctata, both the environmental and genetic types are reviewed.
Robin D. Clark, Cynthia J. Curry
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Abstract This chapter reviews the more common viable skeletal dysplasias. The disorders discussed here include the less severe type II collagenopathies, spondyloepiphyseal dysplasia and Kniest dysplasia. The many types of chondrodysplasia punctata, both the environmental and genetic types are reviewed.
Robin D. Clark, Cynthia J. Curry
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