Scoliosis in a child with a rare genetic syndrome (Schinzel-Giedion): a case report
Scoliosis in a case of Schinzel-Giedion syndrome
In simple words
Schinzel-Giedion syndrome is a very rare genetic condition affecting the face, bones, brain development and other organs. Most affected children do not survive beyond 2 years. This report describes the first known case of scoliosis in this syndrome.
What the study looked at
A single child with Schinzel-Giedion syndrome, treated at Children's Hospital, New Orleans, who developed a sideways curve of the spine at age 8.
What it found
The curve progressed quickly into severe scoliosis of the mid and lower back, with mild forward rounding (kyphosis). MRI showed no problem inside the spinal canal, and the curve was thought to be neuromuscular. Bracing was not expected to help and surgery was not advised because of the child's overall health; wheelchair adjustments kept her sitting balance good.
Why it matters for patients
Children with this syndrome who live longer should be watched for scoliosis, because the nerve and muscle weakness of the condition can make the spine curve.
Authors: Sharma AK, Gonzales JA · HSS J 2009;5(2):120–122