Facial Analysis Series: The Enigma of the Facial Congenital Disease and How to Treat It

Facial analysis isn't just for cosmetic procedures. Let's explore how facial analysis is used for reconstructive cases when correcting congenital (also known as birth) defects.

Meet Karson.

Karson before and after his reconstructive surgery for congenital hemangioma. (Source)
Karson before and after his reconstructive surgery for congenital hemangioma. (Source)

Karson was born with a congenital hemangioma, which began as a tiny, harmless, red bruise on his nose and quickly swelled into a troubling bump.

Karson needed immediate plastic surgery to reconstruct his nose. His physicians had to act quickly to ensure that his nose not only looked like a nose but functioned like one as well.

Each year, 600,000 newborns like Karson are diagnosed with congenital craniofacial disorders. In the past decades, physicians had no choice but to treat them using tools that fell far short of what they needed for planning, executing, and monitoring these tricky procedures. This is because surgeons relied on 2D photography, an imaging technique that fails to offer comprehensive, detailed, and precise images of their patients. It offers little to no information about patient soft tissue composition, which is vital for surgeons when operating on congenital disorders that require them to cut, graft, and alter sensitive soft tissue including skin, muscles, and nerves.

3D images, models, tools, and prosthetics are now addressing 2D technology's shortcomings, giving plastic surgeons the tools they need to plan, execute, and monitor congenital conditions.

In this article, we'll walk you through three case studies that highlight how 3D technology has addressed some of the most pressing concerns in treating congenital disorders: 1) catching subtle but dangerous conditions early-on, 2) visualizing these conditions in detail when planning for surgery, and 3) executing complex reconstructive surgeries.

Congenital Defects: Top Third

Because they often result in skull malformation and abnormal brain development, congenital disorders occurring at the top of the head are some of the most serious conditions physicians treat.

If these malformations are not identified early on, they could cause stunted brain development and life-long cognitive impairment.

That means that physicians need the resources to visualize and assess the growth of an infant's soft and hard tissue—capabilities 2D photography could never provide.

Sagittal synostosis (aka scaphocephaly) is the most common form of craniosynostosis, a condition in which two or more areas of the brain fuse abnormally during in vitro development. This fusion essentially cuts the area needed for healthy brain development in half.

In order for the body to make space for the brain, the skull grows outward, causing a distended forehead like the one shown in the top and bottom left photos in the pictures below. 

An example of sagittal synostosis as illustrated by the Centers for Disease Control and Prevention & National Center on Birth Defects and Developmental Disabilities. (Source)

If this patient's sagittal synostosis had been not identified and addressed early on, it could have resulted in life-long brain damage.

You'll notice, however, that the 2D photography, the front view of the patient above, doesn't show the whole story, or necessarily indicate that the patient above suffers from this condition. Unless he clearly demonstrates other symptoms associated with craniosynostosis, doctors may not definitively know that he has sagittal synostosis.

The 3D scan below, however, tells a different story. Though the skull on the right is not an exact replica of the patient's, it is what his physician would see were he to have a 3D scan.

Sagittal synostosis prevents normal brain development by narrowing its placement in the skull. (Source)
Sagittal synostosis prevents normal brain development by narrowing its placement in the skull. (Source)

Clearly, this patient has a large forehead because he developed abnormally in utero. His forehead is distended because his sagittal suture fused earlier than it should have.

Knowing this could help the physician quickly diagnose the disorder and operate to correct it, ensuring that the patient avoids life-long brain damage as a result.

Congenital Defects: Middle Third

Though rarely associated with prolonged neural damage, the middle third of the face is associated with the most common craniofacial congenital conditions: cleft lip and/or cleft palate. Every year, 2,650 babies are born with a cleft palate and 4,440 babies are born with a cleft lip with or without a cleft palate.

The condition occurs within the first 25 to 28 days of intrauterine development when the fetus fails to develop distinct nasal and oral cavities. This presents surgeons with a unique challenge when planning for surgery: they need to intimately know the measurements of each patient's nasal and oral soft and hard tissue in order to reconstruct a separate mouth and nose. Without this data, procedures require a lot of guesswork when it comes to cutting, grafting, and rearranging tissue.

3D technology eliminates much of this guesswork by giving surgeons the tools they need to visualize and measure the patient's soft and hard tissue.

The relevance of 3D technology is particularly evident when treating one of the most common forms of the congenital disorder median facial dysplasia, shown below.

A patient with median facial dysplasia. (Source)
A patient with median facial dysplasia. (Source)

Patients afflicted with this condition do not have a clear division between their nose and upper lip, which you can see clearly in the picture above. However, you can't see the extent to which her nasal and oral cavities are entwined.

That's where 3D technology comes in.

More and more, surgeons are turning to 3D imaging to make these important soft tissue measurements because “3D images compensate for...inadequacies [of 2D photography] because they are essentially independent of pose and can be inspected from any viewpoint.” That means they can get comprehensive, accurate visuals of the patient's oral and nasal structures without having to worry about patient placement or position.

They don't even have to worry about whether the patient is outside the womb. Researchers at the Universidade Federal do Rio de Janeiro were able to take these 3D images of a developing embryo:

3D images show a developing embryo with cleft palate. (Source)
3D images show a developing embryo with cleft palate. (Source)

Researchers were able to identify that this baby had a cleft palate even before she was born. More to this point, they were able to take precise measurements of the patient's nasal and oral soft tissue throughout her time in the womb to make sure that they were surgery-ready when she exited.

3D technology brings new assets for treating this region of the face as it does for the other regions. It offers what 2D photography never could: access to precise, accurate measurements in virtually any place with any lighting at any time.

Congenital Defects: Bottom Third

Unlike 2D photography, 3D technology also enables doctors to create accurate models and surgical guides for complex reconstructive surgeries.

Along with cleft conditions, one of the most complex congenital reconstructive surgeries occurs at the bottom of the face. Micrognathia, a condition resulting in an abnormally small mouth and chin, is one of the trickiest congenital conditions to address. This is because it requires the surgeon to reconstruct—sometimes entirely—the patient's jaw and chin.

Failing to understand the placement of the patient's tongue (usually so far back that it causes breathing problems) or mandibular structure can lead to poor or failed reconstructive surgery.

A patient with Pierre Robin Sequence exhibits an underdeveloped chin. (Source)
A patient with Pierre Robin Sequence exhibits an underdeveloped chin. (Source)

Luckily, 3D technology not only gives plastic surgeons access to 3D imaging to take necessary measurements, but also enables them to create precise surgical tools, mouth and chin prosthetics, and 3D models of the patient. The image below offers one such example of a 3D model that improved a patient's surgical outcome:

A 3D cranial model developed to help reconstruct this patient's jaw. (Source)
A 3D cranial model developed to help reconstruct this patient's jaw. (Source)

Dr. Sargent, an Utah-based craniofacial surgeon, was able to recreate the skull and jaw of a patient to plan and better execute reconstructive surgery. In the picture on the right, an area of darker-shaded red attached to the model's mouth region is the area Dr. Sargent and his team were able to measure, simulate, and ultimately reconstruct.

It offers an important example of yet another advantage of 3D technology: its capacity to create state-of-the-art 3D tools, prosthetics, and models to help surgeons in a way 2D photographs never could.

3D Technology: The Tool Needed for Congenital Disorder Treatment

3D images, models, tools, and prosthetics offer surgeons new resources to visualize, plan, execute, and monitor operations for various congenital disorders, regardless of how different in appearance or structure they are. This is precisely because this 3D technology helps surgeons measure and understand changes in soft tissue in ways that no tools could before.

This technology helps surgeons treat conditions in what are often the most sensitive populations: children. They help give these young patients, their families, and the medical community much needed peace of mind.