Results 231 to 240 of about 39,956 (278)
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Seminars in Fetal and Neonatal Medicine, 2005
This review is intended to help the neonatologist who is asked to see a baby or speak to parents who are expecting a baby with signs of a generalised disturbance of bone growth and/or modelling. In this review, we will: define a skeletal dysplasia; discuss the presenting features of a skeletal dysplasia in pregnancy and the newborn period; suggest a ...
Jane A, Hurst +2 more
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This review is intended to help the neonatologist who is asked to see a baby or speak to parents who are expecting a baby with signs of a generalised disturbance of bone growth and/or modelling. In this review, we will: define a skeletal dysplasia; discuss the presenting features of a skeletal dysplasia in pregnancy and the newborn period; suggest a ...
Jane A, Hurst +2 more
openaire +2 more sources
Best Practice & Research Clinical Endocrinology & Metabolism, 2002
The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) that comprise the human skeleton. Many result in disproportionate short stature. The classification of these disorders has evolved over the past 30 years from purely clinical-pathological ...
Ravi, Savarirayan, David L, Rimoin
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The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) that comprise the human skeleton. Many result in disproportionate short stature. The classification of these disorders has evolved over the past 30 years from purely clinical-pathological ...
Ravi, Savarirayan, David L, Rimoin
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Clinical Orthopaedics and Related Research, 1976
Mesomelic shortening of the extremities lends itself as a useful clinical and/or radiologic sign to characterize a group of hereditary bone dysplasias. Table 1 and Figure 4 are presented to facilitate the comparison between the many different types of mesomelic dwarfism.
I, Kaitila, J T, Leisti, D L, Rimoin
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Mesomelic shortening of the extremities lends itself as a useful clinical and/or radiologic sign to characterize a group of hereditary bone dysplasias. Table 1 and Figure 4 are presented to facilitate the comparison between the many different types of mesomelic dwarfism.
I, Kaitila, J T, Leisti, D L, Rimoin
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Pediatric Radiology, 2012
Skeletal dysplasias are a large diverse group of disorders characterized by abnormal bone and cartilage growth. Approximately one-quarter of them are considered lethal in the perinatal period. This paper will review the components of the skeletal survey, the primary imaging tool for diagnosing dysplasias postnatally, emphasizing the use of an organized
Shawn E, Parnell, Grace S, Phillips
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Skeletal dysplasias are a large diverse group of disorders characterized by abnormal bone and cartilage growth. Approximately one-quarter of them are considered lethal in the perinatal period. This paper will review the components of the skeletal survey, the primary imaging tool for diagnosing dysplasias postnatally, emphasizing the use of an organized
Shawn E, Parnell, Grace S, Phillips
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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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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 +2 more
exaly +2 more sources
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
David L, Rimoin +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
David L, Rimoin +5 more
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2013
Bone is metabolically active throughout life and metabolic disturbances may have wide-ranging consequences that are not restricted to altering its mechanics. The study of some genetic bone diseases has already provided remarkable insights into the normal regulation of bone metabolism.
B.J. Manaster +2 more
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Bone is metabolically active throughout life and metabolic disturbances may have wide-ranging consequences that are not restricted to altering its mechanics. The study of some genetic bone diseases has already provided remarkable insights into the normal regulation of bone metabolism.
B.J. Manaster +2 more
+4 more sources
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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