How to manage Klippel-Feil syndrome in infants?

Question

Hi doctor,

My nine-month-old infant has Klippel-Feil syndrome. She has multilevel issues throughout her spine and would like you to review the submitted information and let us know your thoughts. We believe she also has a hemivertebra that is fully segmented at the right C5.

Kindly suggest.

Thank you.

Answer 1

Hi,

Welcome to icliniq.com.

I understand your concern.

I reviewed the image and reports you uploaded (attachment removed to protect the patient's identity).

The most concerning here is a deformity in the spine. There is a defect in the formation of multiple vertebrae, which is responsible for the deformation. As I can see from the X-rays, the head of the child is tilted to one side. So as far as the spine is concerned, there are two issues to be dealt with and taken care of.

Firstly, the tilting of the head could be due to two reasons. One, there could be instability of C1-2, or the muscles are tight. This has to be checked because if the muscle is the source, it can be corrected with minor surgery. Secondly, she has scoliosis (a sideways curvature of the spine that most often is diagnosed in adolescents) in the cervicothoracic region due to malformation in multiple vertebrae. That has to be kept under regular follow-up. Every six months, get an X-ray and follow up with a doctor.

I hope that you get your answer.

Please let me know if you need any help.

Thank you.

Answer 2

Hi,

Welcome back to icliniq.com.

I understand your concern.

The call is being connected.

Regards.