Results 231 to 240 of about 62,388 (273)
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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
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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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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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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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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
+4 more sources
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
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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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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Revista Brasileira de Ultrassonografia, 2022
ARIELA MAULLER VIEIRA PARENTE +2 more
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ARIELA MAULLER VIEIRA PARENTE +2 more
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