Close this search box.


Dr Dufresne publishes a letter responding to a previously published article, highlighting nuances of respiratory medicine in Freeman-Burian syndrome.

Be sure to browse related website resources for more information about Dr Dufresne, and do not hesitate to contact us, should you desire additional information, resources, or to schedule an interview.

Danger of Life-Long Respiratory Problems in Patients with Rare Condition Highlighted in New Medical Journal Article


Date: 30 Oct 2020

FAIRFAX—The October issue of the Annals of Rehabilitation Medicine, published online Thursday, features a letter by world-renowned rare disease specialist and DC area plastic surgeon, Dr Craig R Dufresne, highlighting nuances of respiratory medicine in the care of patients with Freeman-Burian syndrome (FBS). FBS, an exceptionally rare and difficult to treat birth defect, is primarily a condition of facial and skull muscles that frequently involves muscles in the arms, legs, and elsewhere. Dufresne’s letter is in response to a previously published article in the Journal, which he felt contained inaccuracies that could potentially endanger patient care.

Dufresne’s comments highlighted how the syndrome’s origin as a muscle disorder guide prevention of lung problems for patients with FBS. Dufresne explained: “In FBS, white fibrous tissue replaces normal muscle tissues in some areas. It behaves like scar tissue, forming constricting bands.” Dufresne says it is these “constricting bands” that indirectly cause the joint problems and deformed-appearing bones. These same “constricting bands” can, in patients with severe cases, impair the muscles between the ribs and other muscles that help with breathing. While the article to which Dufresne responded referenced ‘weakness’ of these muscles, Dufresne expressed concern for the authors’ long-term treatment regimen, which involved CPAP use at home and periodically being hospitalized and placed on a ventilator. “Ventilator use has no place in a chronic management plan for patients with FBS,” Dufresne says. He continued, “It is a life-saving procedure for the acutely ill and those with high-level paralysis.” He cautions that this type of medical treatment is highly invasive and carries its own significant risks.

Instead, he encourages therapy to help patients with FBS improve their lung function. While everyone should be committed to life-long exercise, it is critical for patients with FBS to maximize their lung function and to prevent or limit secondary effects of lung, joint, and spine problems. There is growing evidence supporting the use of exercise in treating many conditions, and the evidence-base for using exercise to treat for lung and joint problems is especially strong.

Finally, he reviewed diagnostic criteria of the syndrome, which, he explains, center on the presence of certain facial features, not hand or foot deformities, as the other authors suggest.

For more information and to arrange interviews with Dr Dufresne and a patient who has this very rare syndrome, please contact the office.

Craig R Dufresne, MD, PC, with offices in Fairfax, Virginia and Chevy Chase, Maryland, is a premier private solo practice providing aesthetic and reconstructive surgery care to adults and children from across the globe. Research supports the mission to provide safe, exceptional, innovative, and compassionate care that enhances overall well-being and health.


Additional Resources

Scroll to Top