Specialty Clinics

I would like for you to visualize an unusual and perhaps disturbing image, but one that proved invaluable in the development of a new medical specialty. In the late 1960’s a French physician, Paul Tessier, studied the pattern and the manner in which facial bones break by analyzing the damage to human skulls that were deliberately shattered. What was the purpose for Tessier’s studies? By his tedious analysis, he was able to suggest ways to surgically correct birth defects of the head and face.

For more than 100 years, physicians have attempted to correct severe structural malformations of the head and face. These malformations often result in severely altered physical features and damaged self-concept.

Each year more than 80,000 people are born with such abnormalities of the head and face. Many of these cases are due to chance mutations or changes in our genes. Many of these patients must undergo multiple major surgeries to improve function and appearance. Paul Tessier’s studies laid the foundation for a new medical specialty called craniofacial surgery.

We are all familiar with the term “soft spot” as related to an infant’s skull. The soft spot is the spot where cranial bones come together. It allows cranial bones to stretch and move with the developing brain. These bones will eventually fuse. Certain genetic conditions called craniosynostosis syndromes are caused by an early fusion of the cranial bones. This can result in increased pressure on the brain, nerves, and deformations of the face.

Some of these syndromes are due to genetic factors and are potentially inheritable. They might recur in subsequent children or subsequent generations. Two of these genetic conditions, called Apert syndrome and Crouzon syndrome, are due to mutations of a gene on chromosome 10.

Craniofacial surgery has done much to improve both the physical and mental well being of these young patients. Craniofacial clinics for patients and families are located throughout our state. Clinical geneticists from the Greenwood Genetic Center are key members of the craniofacial clinic teams.

Next time, I would like to tell you more about the craniofacial clinics, introduce you to the services they provide to patients and families and introduce you to the Greenwood Genetic Center faculty who participate in these services.