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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Bone mineral status of women with Marfan syndrome.

PURPOSE: With effective surgical correction of vascular abnormalities, skeletal health is an important issue for patients with Marfan syndrome. Osteopenia has been radiographically described, yet no systematic evaluation of bone status has been published. The purpose of this study was to determine the bone mineral density ( BMD, g/cm2) in women with Marfan syndrome. PATIENTS AND METHODS: Seventeen women, 37.2 +/- 7.3 years old, with Marfan syndrome were studied. Dual energy x-ray absorptiometry (DXA) was used to measure BMD at the lumbar spine (L2-L4), proximal femur, and total body in all subjects. Scoliosis scores were assigned from 0 (no curvature) to 3 (severe curvature). RESULTS: Highly significant deficits in BMD were observed at the proximal femur (p = 0.0001) as well as of the whole body (p < 0.05). Femoral neck BMD Z-score (mean +/- SD) = -1.36 +/- 0.94, trochanter Z = -1.07 +/- 0.80, and intertrochanter Z = -1.44 +/- 0.71; whole-body BMD Z-score = -0.30 +/- 0.16. BMD at L2-L4, however, did not differ from age-predicted values, Z = -0.48 +/- 1.16. There was no significant association between BMD and scoliosis, nor between BMD and fracture history. To correct for bone size, the bone mineral apparent density (BMAD, g/cm3) was calculated. The femoral neck BMAD values (mean +/- SD) were significantly lower than predicted (0.125 +/- 0.02 versus 0.147 +/- 0.001 g/cm3, p < 0.001). All subjects had normal menarche, and 15 reported regular menses. There was no history of nontraumatic fracture. CONCLUSIONS: Women with Marfan syndrome have bone deficits at the proximal femur as well as of the whole body. This deficit is not related to scoliosis and persists when corrected for bone size. Women with Marfan syndrome may be at increased risk for proximal femoral fracture.[1]


  1. Bone mineral status of women with Marfan syndrome. Kohlmeier, L., Gasner, C., Marcus, R. Am. J. Med. (1993) [Pubmed]
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