Defective bone mineral density in Marfan's syndrome

We report the case of a male-adolescent with the Marfan's syndrome, in whom a secondary osteoporosis was casually detected by skeletal X-rays. The biochemical investigations revealed a marked reduction of serum 25-hydroxyvitamin D concentrations. Bone densitometry and bioumoral markers suggested low-turnover osteoporosis, particularly at the spinal site, as expression of inadequate bone acquisition during adolescence, and a likely osteomalacia deriving from vitamin D deficiency. A review of factors contributing to the genesis of defective bone mineral density in the Marfan's syndrome is reported.