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Chad Purnell, M.D., pediatric plastic surgeon, joins the podcast to talk about research to improve the care for children with craniofacial conditions.

Plastic Surgery Craniofacial Microsomia Research

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Recognized as one of the world's greatest philanthropies, Shriners Hospitals for Children is an international hospital system recognized for transforming the lives of children through expert care and research. And now, another episode of the Shriner Hospitals for Children Chicago podcast series, Pediatric Specialty Care Spotlight with Melanie Cole.

Melanie Cole: Welcome to Pediatric Specialty Care Spotlight with Shriners Hospitals for Children in Chicago. I'm Melanie Cole. And today, we're discussing plastic surgery and craniofacial microsomia research. Joining me for this fascinating episode is Dr. Chad Purnell. He's a craniofacial plastic surgeon with Shriners Hospitals for Children in Chicago. Dr. Purnell, tell us a little bit about craniofacial microsomia. What is that? Dr. Chad Purnell: So it's interesting, craniofacial microsomia is actually the second most common craniofacial anomaly. And almost everyone knows about cleft lip and palate, which is the most common craniofacial anomaly, but craniofacial microsomia is the second most common. But interestingly enough, most people just really don't know about it.

What it is, is it's a complex disorder that can kind of affect the development of any part of the face, so basically everything from the top of the head down to the neck and even into the rest of the body. But in general, what it does is it often causes parts of the face on either one or both sides to be either small or malformed. And so patients will often have asymmetries of their ears, of their jaws and their bites, of their eye sockets and really kind of a lot of different problems.

Melanie Cole: Wow. So how and when is this diagnosed? Is it something you can see on an ultrasound in utero, or do we wait until the child is born or even as they're growing? When is this something that gets noticed?

Dr. Chad Purnell: Believe it or not, I think there are a lot of people with craniofacial microsomia that are walking around and still don't know they have it, because there's a really wide range of how the disease can present. So some patients have a very severe form where they have really very obvious kind of differences in their orbits or differences in their jaw or their bites. But a lot of patients have a much more mild deformity that actually just presents as an orthodontist saying, "Well, you've got some asymmetry in your bite and we're going to have to do some extra braces." So for some kids, this is something that they know almost immediately after birth. But for some patients, this is something that we don't figure out until they're even into adulthood.

Melanie Cole: So then tell us about treatments that are available?

Dr. Chad Purnell: So there's a lot of different treatments that are available for craniofacial microsomia kind of, because there's a lot of different things that can happen with craniofacial microsomia. So I'd say that the most common presentation is that a patient is born either without an ear or with an ear that's significantly smaller than the other side. And so usually for those kids, what we'll do is whenever they reach around age somewhere around eight to 10, we can reconstruct their ear with rib cartilage taken from their ribs, either on one or both sides. And then we can also help improve their hearing by putting in something called a bone-anchored hearing aid that allows them to hear even though they are missing some of the structures that allow sound to enter into the inner ear.

Melanie Cole: It's fascinating. So Dr. Purnell, why is Chicago Shriner's Hospital The right place for care? Tell parents why you are so unique and your multidisciplinary approach for these children.

Dr. Chad Purnell: I love working for Shriners and Shriners Chicago is really a special place. At Chicago Shriners, we have a kind of a nationwide referral pattern for children with craniofacial differences. And so, this is something where, so for example, cleft lip and palate, we're seeing hundreds and hundreds of patients every year with cleft lip and palette. And we're one of the busiest cleft centers in the country. And while we treat a lot of cleft lip and palate, we also have a very busy practice treating children with craniofacial problems. So craniofacial microsomia isn't particularly common overall. It's about one in every 3,500 births. But at Chicago Shriners, I'm seeing a patient every day with craniofacial microsomia. So this is something that our multidisciplinary team takes care of all the time. And we're very well-versed in all the different treatments required. Our cleft and craniofacial team at Shriners has speech therapists, orthodontists, pediatric dentists, plastic surgeons, ear nose and throat doctors, and really just a huge amount of providers that can take care of every aspect of these patients.

Melanie Cole: So we've talked about craniofacial microsomia, and we're going to veer off a little bit for the listeners, just so they understand because you're one of a handful of Shriners Hospital's research grant recipients of a joint Shriner's Hospital and Georgia Tech grant. Can you please tell us about your research grant? Give us a project synopsis of your Craniofacial Microsomia Informatics Infrastructure. Tell us a little bit about this absolutely fascinating research grant.

Dr. Chad Purnell: Sure. So, happy to. You know, Craniofacial Microsomia Informatics infrastructure, I tried to come up with the hardest title that I could for this research.

Melanie Cole: Yes. You did that.

Dr. Chad Purnell: But really, this research grant was a really interesting opportunity because I'm very interested in the care of these children with CFM. I'll kind of highlight the problem for you. So if you think about cleft lip and palette, so about in every 700 births are born with a cleft lip and palate. Craniofacial microsomia is about five times less common than that. But there's about 37 times less research that's been done on craniofacial microsomia. And part of the reason why is it's more rare, it's complicated and it's hard to do research on, and it really takes a huge effort to kind of begin to study it.

And so I was really excited by this research opportunity where Shriners would partner with Georgia Tech. And what they did is they matched us with a researcher at Georgia Tech that would have some skills that would marry well with what our clinical interests were. So I was paired in the grant writing with May Wang who has a fantastic biomedical engineering lab where she's doing all kinds of interesting data analysis and kind of helping us translate what we're doing in clinical science into good research studies.

So the grant that we wrote, this is sort of a very foundation-based grant. So the idea is that we're seeing tons of patients with craniofacial microsomia at Shriners, collecting data on these patients and organizing that data is extremely difficult. So it's because we're taking 3D photographs of these patients. We're taking CT scans, we're taking clinical pictures, and then we also have all of our notes that we're putting in the electronic medical record. The problem is that's a ton of data, but it's not organized. It's not easily accessible and it's hard. It takes a lot of effort to kind of look up any one thing about any one patient for research purposes.

So my goal with this grant that I wrote with Dr. Wang is that we're taking all of the data that we have at Shriners in Chicago. And we're finding a way to translate that into basically a way that the electronic medical record can speak to our research software and allow us to do research with all of this data that we already have. Kind of the way that I describe it is whenever we have all these different types of data, it's like a bunch of people speaking different languages.

And what you really want is you just need one of those phones that everyone seems to be on at the UN where everyone speaks in their native language and someone else is hearing it in their own native language. And what this grant is doing is this is really creating a translation that allows us to input all different types of data on these patients and have it organized and kind of translated into a way that computers and research personnel can understand in one organized place.

Melanie Cole: How cool is that? What a great idea. And you explained it so very well. And before we wrap up, I'd like you to expand a little on some specific aims for this project, where you see it going in the future. How long do you think it will take? And while you're telling us all of that, as if I'm not adding enough, I'd like you to speak to parents just a little bit about cranifacial microsomia and what you would like them to know about your incredible expertise at Shriners Hospitals for Children in Chicago.

Dr. Chad Purnell: So, for this study, what we're doing is, like I said, this is kind of a foundation. So we're building a foundation for future research. So the nice thing about this grant is that I don't have to answer a research question. This is really for me to build a framework that I can then do research off of later.

So this grant is for a two-year period. And we're already well into the process of building what we need. And so it's really a lot of heavy lifting on the computer engineering side right now, where they're kind of programming things that allow all of Shriner's data to be organized and translated into usable kind of pieces.

But after this two years is kind of where I'm really excited about because then I get to start asking questions about different things in craniofacial microsomia, and I get to hopefully find some answers. So my goal is that in the long-term to see if there are specific kind of subgroups of these patients. So we don't really know are there more kids with CFM that happened to have ear problems combined with certain jaw problems? Or is it just that there is a complete random sampling of these patients? And what the hope is, if we can identify clear subgroups of patients, then we can treat them with a more customized approach right from the beginning. And so that's the long-term goal. And I think I'll spend probably a good part of my career working on that. But this grant is really kind of two years of getting started to kind of meet some of those long-term goals.

And then also just to talk to parents, I would say if your child has a craniofacial problem where they have abnormal formation of any of the facial structures, concerns about their bite not being correct, problems with positions of their eye sockets, their jaws, teeth, nose, or they have a cleft lip or palate or an ear problem, we have a huge multidisciplinary team at Shriners Hospitals for Children in Chicago, and we would love to, A, see your child and hopefully be able to guide you and help you with whatever we can.

If you have concerns that your child might have craniofacial microsomia or have some sort of facial asymmetry, this is something that we are one of the busiest centers in the country taking care of these children. And we bring a lot of expertise and a lot of experience to the table in treating these children. So we're very happy to have this opportunity to take care of children all around the United States.

Melanie Cole: Well, you certainly do. And passion and compassion, Dr. Purnell, I can hear as well. So thank you so much for joining us today. And for more information on our craniofacial care for children, please visit shrinerschicago.org or you can call seven (773) 385-KIDS, that's 5437. And that concludes this episode of Pediatric Specialty Care Spotlight with Shriners Hospitals for Children in Chicago.

Please also remember to subscribe, rate and review this podcast and all our other Shriners Hospitals for Children in Chicago podcasts. I'm Melanie Cole.

About the Speaker

Chad Purnell, M.D.

Chad Purnell, M.D., is a board-certified plastic surgeon at Shriners Children's Chicago who specializes in craniofacial surgery and microsurgery. He is passionate about the care of children with craniofacial disorders, including cleft lip and palate, craniosynostosis, craniofacial (hemifacial) microsomia, Crouzon, Apert, Pfeiffer, and Treacher-Collins syndromes.

Learn more about Chad Purnell, M.D.

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