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Dr. Robert Bernstein explains what skeletal dysplasia is, how common it is, warning signs, and treatment options available.

Caring for Skeletal Dysplasia

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Melanie Cole (Host): Welcome. Today we’re discussing care for skeletal dysplasia. Joining me is Dr. Robert Bernstein. He’s a pediatric orthopedic surgeon and the chief of staff for Shriners Hospitals for Children in Portland. Dr. Bernstein, it is a pleasure to have you join us again today. You are internationally recognized for your specialization in skeletal dysplasia. For those who are not familiar, can you explain what it is?

Robert Bernstein, M.D. (Guest): So, skeletal dysplasia is a general medical term, and it basically describes a set of diseases that affect the bones and cartilage and their growth. So, another word for a skeletal dysplasia is an osteochondrodysplasia. Again, meaning that the “osteo”, the bone, and the “chondro”, the cartilage, is not growing normally, and there’s a large number of these diseases. In fact, over about 400 of them, and they generally are genetically inherited, and they’re a fairly rare set of diseases, and they affect the overall height of the patients as well, and so, frequently, somebody with a skeletal dysplasia will be referred to as a “dwarf” or a “little person”.

Melanie: Well, as you mentioned, there is a few different forms. Tell us about some examples of skeletal dysplasia conditions that you and your team treat.

Dr. Bernstein: The most common type of skeletal dysplasia is achondroplasia, and so when you think of a dwarf, that’s the most common type that often times you’ll see, but it occurs in about 1 in 15,000 live births and affects the overall standing height of the patient, and it results in sort of disproportionate growth. So, the upper portion of the arms and the upper portion of the legs don’t grow quite as fast as the lower portions. Forehead grows a little bit faster than the mid face. So, that’s the most common type of skeletal dysplasia, but we also take care of patients with spondyloepiphyseal dysplasia, cartilage hair hypoplasia, pseudoachondroplasia, and the list just goes on and on and on because, again, you’ve got over 400 diagnoses that constitute the entire group of skeletal dysplasias.

Melanie: Well, thank you for explaining that, and as there are so many, is this considered a common condition, and is there a genetic component to it?

Dr. Bernstein: Yeah, so, there’s definitely a genetic component to virtually all of these conditions. Another type that also we consider a skeletal dysplasia is osteogenesis imperfecta, which is Brittle Bone Disease, and so the answer yes. These generally are inherited conditions, but they’re rare conditions, and so the thing is that very few pediatric orthopedic surgeons in general practice will see a large number of these, and for that reason, having the ability to be treated or evaluated at a specialty clinic where you have geneticists, genetic counselors, orthopedic surgeons who specialize in skeletal dysplasias, neurosurgeons also involved in their care, etcetera. Those types of clinics are extraordinarily important for these rare diseases.

Melanie: So, can you tell us if there are signs of skeletal dysplasia during pregnancy or do you only notice it at birth? When would it be diagnosed because you mentioned genetic counselors and all of the different providers that might be involved? When is this something that’s noticed?

Dr. Bernstein: So, some of these can be detected in utero by ultrasound. So, when a structural ultrasound is being performed at 24 weeks or 16/18 weeks’ gestation, sometimes, the ultrastenographer may identify that the bones appear to be shorter than they would expect for that age of a fetus, and so, at that point, they may alert the family and the physician that they may have detected something that may not be perfectly normal, but that information generally is not enough to make a specific diagnosis of skeletal dysplasia or the type of skeletal dysplasia, and so that’s usually done after birth where the child can be evaluated by the geneticist. Oftentimes there are blood tests that can be done to look for genetic markers and things like that. X-rays are obtained and help us in the diagnosis of the particular disease.

Melanie: Well, so, if it is something that might be seen on ultrasound and your program at the Portland Shriners Hospital conducts specifically for patients experience any form of skeletal dysplasia, explain a little bit about the different providers and would a mother be referred to you at that ultrasound at that time or do they wait until the birth before they would come to you and your specialists? Tell us about your multidisciplinary team.

Dr. Bernstein: Yes. So, we are a recognized skeletal dysplasia center by The Little People of America. We’re just the largest group of patients with skeletal dysplasias, and I sit on that medical advisory board. So, we have geneticists and genetic counselors. Obviously, pediatric orthopedic surgeons. We have neurosurgeons that are involved in the clinic. Endocrinologists that are involved in the clinic, general pediatricians, and so all of those are able to provide their input evaluation of a child, determine what tests need to be obtained once we’ve identified the actual problem for the child. It helps us with the prognosis, and what’s going to happen over the lifetime of that child. What can we warn the family about? What is it that we can take care of? What sort of other issues and even though I’ve, you know, focused on the fact that these are bone and cartilage problems, they frequently have other medical issues. So, they can have heart problems and kidney problems and neurologic problems, and so, it’s important for them to be evaluated by a geneticist who has experience in skeletal dysplasias, and even within genetics itself, that’s a limited number of geneticists in the country.

Melanie: Are there treatment options? What treatment options does Portland Shriners Hospital provide for skeletal dysplasia?

Dr. Bernstein: Well, we obviously provide the ability to come up with a diagnosis. We provide the ability to get genetic testing and endocrinologic testing and what other types of evaluation need to be performed and then address those particular issues. So, from an orthopedic standpoint, it could be anything from wearing braces to try and get bones to grow into a straighter position doing growth modulation where we can put little staples or plates across a growth plate to get a limb to grow in the right direction. It may involve scoliosis and kyphosis surgery where we align the bones in the spine to get the patient to stand up in a better position. Sometimes, decompression, removal of bone from around the spine, if the spinal cord is being squeezed by the bones around them because they’re too small, and then other things. Osteotomies that realign bones can be performed. So that gives you sort of an idea. Most of the orthopedic types of problems, but obviously if there is an endocrinologic problem—they need hormones or other treatments to adjust how their bones are developing, that can be provided by our endocrinologist. We can also give them sort of future counseling on when that child is going to have children what sort of things that they can expect.

Melanie: Well, it certainly is comprehensive and thank you for telling us about those breadth of services available for families with skeletal dysplasia. Why is the Portland Shriners Hospital the choice destination for families whose children have this? Please wrap it up for us and tell us why you are so unique at this.

Dr. Bernstein: Well, we’re one of a very limited number of clinics in the country that provide this kind of comprehensive care. We have all of those specialists so that patients who are certainly in the Pacific Northwest have the ability to come to see us, although we have patients that come from all over the country and the world that will come and visit us to be evaluated and treated, and we—because we have all of the other components: the ability to not only provide the diagnosis, do the appropriate imaging, have the neurosurgeon, the endocrinologist, the orthopedic surgeon in the room as well as the genetic counselors and the geneticists to provide that information for the family—we’re able to provide a comprehensive care map for what that patient is going to require over a period of time and give them the best possible care they can obtain.

Melanie: Well, certainly you can and thank you, Dr. Bernstein for joining us again and sharing your incredible expertise. Thank you so much and that concludes this episode with Shriners Hospitals for Children in Portland. Please visit our website at for more information and to get connected with one of our providers. Please remember to subscribe, rate, and review this podcast and all the other Shriners Hospitals for Children podcasts. Until next time, I’m Melanie Cole.

About The Speakers

Robert Bernstein, M.D.

Dr. Bernstein earned his medical degree at University of Southern California and completed his orthopedic residency at Massachusetts General Hospital under the Harvard Combined Orthopedic Residency Program. He also completed a fellowship in spine surgery at Beth Israel Hospital in Boston, Massachusetts, and a fellowship in pediatric orthopedics at Boston Children's Hospital in Boston, Massachusetts.

Learn more about Robert Bernstein, M.D.

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