A one-year-old girl with CdLS recently broke her femur. Her parents are unaware of how this happened. They are also concerned with the length of time it will take to heal and preventive measures they can take in the future (using a walker, physical therapy)? Mom states that her child’s pediatrician has seen literature that states children with CdLS have brittle bones due to nutrition, lack of movement, etc. Do you know about this possibility?
I have not seen literature with CdLS and brittle or fragile bones other than a case report of a woman with CdLS needing a total hip replacement. There is no increased risk for brittle bones or fractures normally with CdLS. It is possible to develop osteoporosis due to poor nutrition (not enough calcium in diet or poor absorption), but usually there would have to be some type of trauma (e.g. a fall) to break a bone due to this. I think they could maximize her vitamins and minerals by giving a supplement once a day. I would (from the pediatric point of view) make sure there has not been trauma inflicted, like physical abuse. Usually, I would obtain a skeletal survey (bone x-rays of entire body) to make sure there are no old, healing fractures, and also an ophthalmologic evaluation (which she has probably had because of the CdLS). Therapy would increase use of the limbs, which is helpful if there is osteoporosis. A walker might prevent further injury.
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