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Current Osteoporosis Reports

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01-06-2021 | Trisomy 21 | Genetics (D Karasik and C Ackert-Bicknell, Section Editors)

Current Analysis of Skeletal Phenotypes in Down Syndrome

Authors: Jared R. Thomas, Randall J. Roper

Published in: Current Osteoporosis Reports | Issue 3/2021

Abstract

Purpose

Down syndrome (DS) is caused by trisomy 21 (Ts21) and results in skeletal deficits including shortened stature, low bone mineral density, and a predisposition to early onset osteoporosis. Ts21 causes significant alterations in skeletal development, morphology of the appendicular skeleton, bone homeostasis, age-related bone loss, and bone strength. However, the genetic or cellular origins of DS skeletal phenotypes remain unclear.

Recent Findings

New studies reveal a sexual dimorphism in characteristics and onset of skeletal deficits that differ between DS and typically developing individuals. Age-related bone loss occurs earlier in the DS as compared to general population.

Summary

Perturbations of DS skeletal quality arise from alterations in cellular and molecular pathways affected by the overexpression of trisomic genes. Sex-specific alterations occur in critical developmental pathways that disrupt bone accrual, remodeling, and homeostasis and are compounded by aging, resulting in increased risks for osteopenia, osteoporosis, and fracture in individuals with DS.

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Title: Current Analysis of Skeletal Phenotypes in Down Syndrome
Authors: Jared R. Thomas
Randall J. Roper
Publication date: 01-06-2021
Publisher: Springer US
Keywords: Trisomy 21
Osteoporosis
Osteoporosis
Published in: Current Osteoporosis Reports / Issue 3/2021
Print ISSN: 1544-1873
Electronic ISSN: 1544-2241
DOI: https://doi.org/10.1007/s11914-021-00674-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Current Analysis of Skeletal Phenotypes in Down Syndrome

Abstract

Purpose

Recent Findings

Summary

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Recent Findings

Summary

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