Ask the expert

Brittle Bones

Question

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?

Answer of our experts

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.

TK 7-13-10

Approved byClinical Advisory Board (CAB)
Answer is checked and valid for
us
Find other pages that share the same topic as this page Feeding and Dental Difficulties15 Feeding and Dental Difficulties4 Feeding and Dental Difficulties50 The musculoskeletal system7 The musculoskeletal system1 The musculoskeletal system4

Recommendation(s)

Feeding and Dental Difficulties

R12
In every CdLS individual with prolonged and marked feeding difficulties, the multidisciplinary assessment (from healthcare workers across many disciplines) should consider (temporary) placement of a gastrostomy (surgical opening through the abdomen into the stomach) as a supplement to oral feeding.
R13
In individuals with CdLS who have recurrent respiratory infections, reflux and/or aspiration (breathing foreign objects into airways) should be ruled out.
R14
The palate should be closely examined at diagnosis. In case of symptoms of a (submucous) cleft palate, referral for specialist assessment is indicated.
R15
Dental assessment and cleaning should take place regularly; a more thorough dental examination or treatment under anaesthesia may be necessary.

Legal Disclaimer

Please take note that the Ask the Expert service is comprised of volunteer professionals in various areas of focus. Answers are not considered a medical, behavioral, or educational consultation. Ask the Expert is not a substitute for the care and attention your child’s personal physician, psychologist, educational consultant, or social worker can deliver.

Do you have a question you would like to ask?

Ask a Question

Do You urgently need help? Contact the CdLS Foundation USA, Our Staff!

Vereniging Cornelia de Lange syndroom

vereniging@cdlsworld.org

Latest news

Useful links

Partners for our communities

    umc.svg

    logoCdlsWorld.png

    EURORDIS.png

    handicapNL.png

    logoiederin.png

    SAC-logo.png

    kentalisLogo.jpg

    lentis.png

    logo_orphanet.png

    logovsop.png

    WaihonaPedia_Logo_staand.png

    logo_zodiak.png
The content on this website (wiki) is licensed under a Creative Commons 2.0 license
Powered by WaihonaPedia 2023: XWiki 15.10.14 - Documentation