The authors have nothing to disclose.
Version of Record online: 7 AUG 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 9, pages 2221–2224, September 2012
How to Cite
Grover, M., Brunetti-Pierri, N., Belmont, J., Phan, K., Tran, A., Shypailo, R. J., Ellis, K. J. and Lee, B. H. (2012), Assessment of bone mineral status in children with Marfan syndrome. Am. J. Med. Genet., 158A: 2221–2224. doi: 10.1002/ajmg.a.35540
How to Cite this Article: Grover M, Brunetti-Pierri N, Belmont J, Phan K, Tran A, Shypailo RJ, Ellis KJ, Lee BH. 2012. Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet Part A. 158A:2221–2224.
- Issue online: 24 AUG 2012
- Version of Record online: 7 AUG 2012
- Manuscript Accepted: 30 MAY 2012
- Manuscript Received: 23 DEC 2011
- NIH/NICHD. Grant Number: P01 HD 22657
- Developmental Studies in Skeletal Dysplasias
- Baylor Intellectual and Developmental Disabilities Research Center. Grant Number: 5P30HD024064-23
- National Institutes of Health. Grant Number: M01-RR00188
- General Clinical Research Center
- Marfan syndrome;
- bone mineral density;
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. © 2012 Wiley Periodicals, Inc.