I am working with a woman with CdLS who has had two fractured femurs in the past 6 months. She did not show pain with either break. Are her fractures related to the syndrome? Is there anything we can do to protect her from further fractures? Is she likely to have more?
It is not common for individuals with CdLS to have fractures. I would have several concerns in this patient. The first would be the possibility of osteoporosis, which could be checked on the x-rays (bone density) and which would predispose to fractures. A DEXA scan can assess for osteoporosis, and might need to be done if the x-rays suggest this. If this is the case, other fractures might have already occurred. A skeletal survey could determine this. She should be put on calcium supplementation, and if severe, specific medications.
The second thought would be the possibility of abuse, depending on the living and working situation. This should be investigated in any "pediatric" patient without good explanation for the occurrence.
The third would be if these are not her first fractures - if she has had recurrent fractures, then a possibility would also be that she could have some type of predisposition to brittle bones (e.g. osteogenesis imperfecta, another genetic condition), in addition to CdLS.
Finally, these could just be accidental and isolated. As you likely know, individuals with CdLS have a very high threshold pain tolerance, and it is not surprising that she is not aware of them. It depends on how these occurred to determine whether or not she will have more.
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