Greetings. My name is Walter Greene and I am a pediatric orthopedic surgeon. My interest in Coffin Lowry Syndrome (CLS) began when I was asked to evaluate a then 13 year old male with an unknown syndrome. The diagnosis of CLS had been considered but his facial and hand features were thought to be inconclusive. The reason for my consultation was his scoliosis (curvature of the spine) that had progressed despite bracing.

My patient was a friendly, invariably cheerful boy with a striking facial appearance, fingers that were wide at their base but relatively small at their ends, and a marked tilt of his spine. The scoliosis measured 60 degrees. With the amount of growth remaining and his degree of scoliosis, progression of the curvature was highly likely. After considerable discussion with his very supportive and appropriately concerned parents, a decision was made to proceed with a spinal fusion operation.

Fortunately, his operation went well and two years later the correction and improved alignment of the trunk has been maintained. However, he has developed cardiac problems and with that added condition, a repeat evaluation by the pediatric geneticist has confirmed the diagnosis of CLS.

Although I have been a pediatric orthopedic surgeon for more than 25 years, I was unaware of Coffin Lowry syndrome. For parents who have a child with CLS, that is not too surprising. Because CLS is uncommon, you frequently encounter physicians who have not heard of CLS.

To learn more, I started researching the medical literature, including the Coffin Lowery Foundation web site. So what do we know about scoliosis and other spinal conditions in CLS – unfortunately, not much. Most importantly, there is nothing in the medical literature and nothing in my multi-volume pediatric orthopedic textbooks concerning how to treat scoliosis and other spinal conditions in CLS.

As you know, the conditions associated with CLS vary. The facial features, tapered fingers, and mental retardation in males are always present but vary in severity. Others such as drop episodes, hearing loss, cardiac conditions, and scoliosis occur in some but not all people with CLS.

How common is scoliosis in CLS? The exact prevalence is unknown, although “soft” data suggests that 20 to 40% of affected males develop curvature of the spine. Most importantly, we do know that scoliosis may progress in CLS and that progressive scoliosis is one of the most troubling aspects of the long term care of individuals with CLS¹. This was noted in an excellent 20 year follow-up study of 6 CLS patients by Dr. Alasdair G. W. Hunter².

From my review of letters sent by parents to the CLS Foundation web site, I have also learned that surgery for scoliosis has sometimes gone well and sometimes complications have developed, either during the hospitalization or later. A study of spinal operations in CLS patients might identify some unique features that would facilitate and improve treatment outcomes. Many questions remain unanswered:

Does scoliosis in CLS always progress and require treatment?

Adolescent Idiopathic Scoliosis (AIS) is the most common cause of scoliosis, accounting for approximately 85%. The overwhelming majority of these patients have a mild or moderate curvature that does not require an operation. Surgery for these patients is only performed when the curvature reaches 45 to 50 degrees.

On the other hand, children with Duchenne muscular dystrophy who develop scoliosis are much more likely to progress and if their curvature reaches 25 to 30 degrees, progression is almost inevitable. Therefore, in muscular dystrophy, surgery usually is recommended when the curvature progresses to 25-30 degrees. With a larger curvature – less correction is obtained, the procedure is more difficult, and in muscular dystrophy children, the postoperative pulmonary problems are greater.

Is bracing helpful in preventing progression of the scoliosis? 

Do patients with CLS tolerate wearing a scoliosis brace?

In children with AIS who have a curvature of 20 to 40 degrees and adequate remaining growth, wearing a brace 16 to 23 hours per day will alter progression in approximately 2 out of 3 patients. In cerebral palsy, the results are not as good and the brace is more often poorly tolerated. A more realistic goal of bracing scoliosis in cerebral palsy is slowing progression rather than avoiding surgery.

What, if any, are the unique features of scoliosis in CLS?

My patient with CLS had a curvature that was different than what is typically found in AIS or what is typically found in neuromuscular conditions such as cerebral palsy and muscular dystrophy. His thoracic spine was in lordosis. 

Furthermore, my patient had some subtle differences in the shape of his spinal bones as well as a curve pattern that were different than any other patient with scoliosis that I have treated. The gene for CLS does have some effect on bone growth and perhaps this is a factor in CLS scoliosis. 

Furthermore, spinal instrumentation continues to improve and if CLS scoliosis is unique, then we will better appreciate the need to alter the operation to provide a better result.

What is appropriate preoperative evaluation before spinal surgery in patients with CLS?

For example, we now routinely obtain echocardiograms prior to scoliosis surgery in Duchenne muscular dystrophy. Should that be done in CLS?

Are there unique complications that are more likely during or after scoliosis surgery in CLS?

How common in spinal stenosis in CLS and is it more likely to develop in people with CLS who have scoliosis?

With your help, we hopefully can provide some information on these questions. If you have a child with CLS, please participate. Even, if your child does not have scoliosis please participate and complete the questionnaire. A negative response provides more information about the prevalence of scoliosis in CLS and perhaps the factors that are not associated with CLS.

If your child has scoliosis – whether treated or not, I request that you complete the questionnaire and also sign the form allowing me to contact his or her physician. I will send another questionnaire to the physician for information concerning severity and location of the curvature, results of treatment, and so forth.

Thank you.

Walter B. Greene, MD

Dr. Walter Greene is a pediatric orthoapedic surgeon and was on the faculty at the University of North Carolina for several years, then on the faculty at the University of Missouri, then with OrthoCarolina in Charlotte, NC. He has retired from private practice.

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