Bone mineral density in healthy children and in osteogenesis imperfecta

1992 ◽  
Vol 17 ◽  
pp. 155 ◽  
Author(s):  
M.W.J. Davie ◽  
M.J. Haddaway
Keyword(s):  
Bone Mineral Density ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Healthy Children ◽  
Mineral Density

Estrogen Receptor α Gene Polymorphisms and Bone Mineral Density in Healthy Children and Young Adults

2004 ◽  
Vol 74 (6) ◽  
pp. 495-500 ◽  
Author(s):  
A. M. Boot ◽  
I. M. van der Sluis ◽  
S. M. P. F. de Muinck Keizer-Schrama ◽  
J. B. J. van Meurs ◽  
E. P. Krenning ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Estrogen Receptor ◽  
Young Adults ◽  
Bone Mineral ◽  
Gene Polymorphisms ◽  
Estrogen Receptor Α ◽  
Healthy Children ◽  
Mineral Density ◽  
Children And Young Adults ◽  
Estrogen Receptor Α Gene

scholarly journals Craniofacial Bone Mineral Density in Mice with Osteogenesis Imperfecta (OI)

2019 ◽  
Vol 33 (S1) ◽  
Author(s):  
Alexandra H McBride ◽  
Summer H Ladd ◽  
Jason M Organ ◽  
Rachel A Menegaz
Keyword(s):  
Bone Mineral Density ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Mineral Density ◽  
Craniofacial Bone

scholarly journals Bone mineral density in developing children with osteogenesis imperfecta

2013 ◽  
Vol 84 (4) ◽  
pp. 431-436 ◽  
Author(s):  
Dieke H J Kok ◽  
Ralph J B Sakkers ◽  
Hans E H Pruijs ◽  
Pieter Joosse ◽  
René M Castelein
Keyword(s):  
Bone Mineral Density ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Mineral Density

Adequate calcium intake during long periods improves bone mineral density in healthy children. Data from the Childhood Obesity Project

2018 ◽  
Vol 37 (3) ◽  
pp. 890-896 ◽  
Author(s):  
Ricardo Closa-Monasterolo ◽  
Marta Zaragoza-Jordana ◽  
Natàlia Ferré ◽  
Veronica Luque ◽  
Veit Grote ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Childhood Obesity ◽  
Bone Mineral ◽  
Calcium Intake ◽  
Healthy Children ◽  
Mineral Density

High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2

2020 ◽  
Vol 93 (4) ◽  
pp. 263-271
Author(s):  
Lara E. Graves ◽  
Christie-Lee Wall ◽  
Julie N. Briody ◽  
Bruce Bennetts ◽  
Karen Wong ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mass ◽  
Osteogenesis Imperfecta ◽  
Bone Mineral ◽  
Quantitative Computed Tomography ◽  
Diagnostic Process ◽  
Low Bone Mass ◽  
Mineral Density ◽  
Pathogenic Variants ◽  
Minimal Trauma

Osteogenesis imperfecta (OI) is a heterogenous group of heritable bone dysplasias characterized by bone fragility, typically low bone mass, joint laxity, easy bruising, and variable short stature. Classical OI is caused by autosomal dominant pathogenic variants in <i>COL1A1</i> or <i>COL1A2</i> that result in either reduced production of normal type 1 collagen or structurally abnormal collagen molecules. Pathogenic variants in these genes generally result in low bone mass. Here, we report a family that had 2 affected individuals who presented with minimal trauma fractures and were found to have elevated bone mineral density (BMD) and a previously unreported variant in <i>COL1A2</i> c.3356C&#x3e;T p.(Ala1119Val). We report the change in BMD using dual-energy X-ray and peripheral quantitative computed tomography over a 2.3-year period in the proband. This case report highlights the importance of BMD studies and genetic testing in the diagnostic process for brittle bone disorders.

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