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Review

Congenital Metabolic Bone Disorders as a Cause of Bone Fragility

1
Department of Experimental and Clinical Biomedical Sciences, University of Florence, 50139 Florence, Italy
2
F.I.R.M.O. Fondazione Italiana per la Ricerca sulle Malattie dell’Osso, Italian Foundation for the Research on Bone Diseases, 50141 Florence, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: David Magne
Int. J. Mol. Sci. 2021, 22(19), 10281; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms221910281
Received: 7 September 2021 / Revised: 21 September 2021 / Accepted: 22 September 2021 / Published: 24 September 2021
(This article belongs to the Special Issue Secondary Osteoporosis in Adults 2.0)
Bone fragility is a pathological condition caused by altered homeostasis of the mineralized bone mass with deterioration of the microarchitecture of the bone tissue, which results in a reduction of bone strength and an increased risk of fracture, even in the absence of high-impact trauma. The most common cause of bone fragility is primary osteoporosis in the elderly. However, bone fragility can manifest at any age, within the context of a wide spectrum of congenital rare bone metabolic diseases in which the inherited genetic defect alters correct bone modeling and remodeling at different points and aspects of bone synthesis and/or bone resorption, leading to defective bone tissue highly prone to long bone bowing, stress fractures and pseudofractures, and/or fragility fractures. To date, over 100 different Mendelian-inherited metabolic bone disorders have been identified and included in the OMIM database, associated with germinal heterozygote, compound heterozygote, or homozygote mutations, affecting over 80 different genes involved in the regulation of bone and mineral metabolism. This manuscript reviews clinical bone phenotypes, and the associated bone fragility in rare congenital metabolic bone disorders, following a disease taxonomic classification based on deranged bone metabolic activity. View Full-Text
Keywords: congenital metabolic bone disorders; skeletal development; bone turnover; mineral metabolism; bone mineralization; bone fragility; pathological fractures congenital metabolic bone disorders; skeletal development; bone turnover; mineral metabolism; bone mineralization; bone fragility; pathological fractures
MDPI and ACS Style

Marini, F.; Giusti, F.; Iantomasi, T.; Brandi, M.L. Congenital Metabolic Bone Disorders as a Cause of Bone Fragility. Int. J. Mol. Sci. 2021, 22, 10281. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms221910281

AMA Style

Marini F, Giusti F, Iantomasi T, Brandi ML. Congenital Metabolic Bone Disorders as a Cause of Bone Fragility. International Journal of Molecular Sciences. 2021; 22(19):10281. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms221910281

Chicago/Turabian Style

Marini, Francesca, Francesca Giusti, Teresa Iantomasi, and Maria L. Brandi 2021. "Congenital Metabolic Bone Disorders as a Cause of Bone Fragility" International Journal of Molecular Sciences 22, no. 19: 10281. https://0-doi-org.brum.beds.ac.uk/10.3390/ijms221910281

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