ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Predictors of low bone density and fracture risk in Loeys-Dietz syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- From Spine to Syndrome: Incidental Spine MRI Red Flags Leading to PMEPA1-related Loeys-Dietz Syndrome.Internal medicine (Tokyo, Japan) · 2026Article
- Diagnosis of skeletal fragility due to Loeys-Dietz syndrome and treatment with romosozumab followed by denosumab.Bone reports · 2025Article
- The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- TGFβ signaling pathways in human health and disease.Frontiers in molecular biosciences · 2023Review
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
purposeLoeys-Dietz syndrome (LDS) is a connective tissue disorder affecting multiple organ systems, including bone.
methodsWe defined the bone phenotype and clinical predictors of low bone density and fracture risk in 77 patients with LDS type 1 to type 5.
resultsPatients with LDS had dual-energy x-ray absorptiometry (DXA) Z-scores significantly < 0, and 50% of children and 9% of adults had Z-scores < -2. Sixty percent of patients had ≥1 fracture, and 24% of patients with spinal x-rays scans showed spinal compression fractures. Lower body mass index, asthma, male sex and eosinophilic gastrointestinal disease were correlated with lower DXA Z-scores. The count of 5 LDS-associated skeletal features (scoliosis, pes planus, arachnodactyly, spondylolisthesis, and camptodactyly) in patients with LDS was correlated with DXA Z-score. Adults with ≥1 skeletal features had DXA Z-scores significantly < 0, and children with >2 features had DXA Z-score significantly < -2. Bone turnover markers suggest accelerated bone resorption. Data from 5 patients treated with bisphosphonates suggest a beneficial effect.
conclusionAll LDS types are associated with reduced bone density and increased risk of fracture, which may be due to increased bone resorption. Clinical features can predict a subgroup of patients at highest risk of low bone density and fracture risk.
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