ArticleAmerican journal of medical genetics. Part A2012
Assessment of bone mineral status in children with Marfan syndrome.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Bone mineral density in pediatric Marfan syndrome patients with scoliosis: a retrospective case-control study using hounsfield units.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2026Article
- Osteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management.Cureus · 2025Review
- Spine health: Back pain and deformity progression.Journal of the Pediatric Orthopaedic Society of North America · 2024Article
- Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.Journal of cardiovascular development and disease · 2024Review
- Osteoporosis in children and adolescents: when to suspect and how to diagnose it.European journal of pediatrics · 2022Review
- The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.Current rheumatology reports · 2021Review
- Deciphering the Relevance of Bone ECM Signaling.Cells · 2020Review
- A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome.Acta paediatrica (Oslo, Norway : 1992) · 2020Article
- Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences.International journal of molecular sciences · 2019Article
- Marfan syndrome: improved clinical history results in expanded natural history.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.Human molecular genetics · 2017Article
- Losartan increases bone mass and accelerates chondrocyte hypertrophy in developing skeleton.Molecular genetics and metabolism · 2015Article
- The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.Italian journal of pediatrics · 2014Review
- E-selectin ligand 1 regulates bone remodeling by limiting bioactive TGF-β in the bone microenvironment.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Fibrillin microfibrils in bone physiology.Matrix biology : journal of the International Society for Matrix BiologyReview
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with skeletal involvement. It is caused by mutations in fibrillin1 (FBN1) gene resulting in activation of TGF-β, which developmentally regulates bone mass and matrix properties. There is no consensus regarding bone mineralization in children with MFS. Using dual-energy X-ray absorptiometry (DXA), we evaluated bone mineralization in 20 children with MFS unselected for bone problems. z-Scores were calculated based on age, gender, height, and ethnicity matched controls. Mean whole body bone mineral content (BMC) z-score was 0.26±1.42 (P=0.41). Mean bone mineral density (BMD) z-score for whole body was -0.34±1.4 (P=0.29) and lumbar spine was reduced at -0.55±1.34 (P=0.017). On further adjusting for stature, which is usually higher in MFS, mean BMC z-score was reduced at -0.677±1.37 (P=0.04), mean BMD z-score for whole body was -0.82±1.55 (P=0.002) and for lumbar spine was -0.83±1.32 (P=0.001). An increased risk of osteoporosis in MFS is controversial. DXA has limitations in large skeletons because it tends to overestimate BMD and BMC. By adjusting results for height, age, gender, and ethnicity, we found that MFS patients have significantly lower BMC and BMD in whole body and lumbar spine. Evaluation of diet, exercise, vitamin D status, and bone turnover markers will help gain insight into pathogenesis of the reduced bone mass. Further, larger longitudinal studies are required to evaluate the natural history, incidence of fractures, and effects of pharmacological therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.