PRESS RELEASE

FAIRFAX—On the first Sunday of May, the first-ever clinical practice guidelines on Freeman-Burian syndrome (FBS) was presented by Mikaela I Poling at the American Society of Craniofacial Surgeons Annual Meeting at the American Cleft Palate-Craniofacial Association Annual Meeting, held virtually this year due to the ongoing SARS-CoV-2 pandemic. Poling is Dr Craig R Dufresne’s Research Assistant. Dufresne, a Washington, DC area plastic surgeon in private practice, has written extensively about FBS and other craniofacial deformities and is considered to be one of the leading experts in the world, having cared for affected patients since the mid-1980s.

Clinical practice guidelines are used by doctors, hospitals, policymakers, and lawmakers to guide patient care, set the standard of care, determine covered services for insurance, determine needed resources and services, and help families and patients understand what care they may need. All major areas impacted by FBS are covered in these ground-breaking guidelines, including: prenatal care, delivery and neonatal care, diagnosis, primary care, dental care, craniofacial surgery, rehabilitation, psychosocial care, educational needs, and anesthesia care. The guidelines are the culmination of over a decade of work, and as a prelude to the guidelines, Dufresne previously published explanatory articles discussing evidence and experience in these areas of care.

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 and is unique in many other ways. Without a clear understanding of FBS, how to treat affected patients, or resources needed for treatment, patient outcomes have remained relatively unchanged since its first description in the medical literature in 1938. It’s Dufresne’s hope that the new guidelines will represent a total paradigm shift and herald a new era of vastly improved patient care and research.

For Dufresne, writing about rare conditions is all about educating people—scientists, physicians, care teams, family members, and patients—in order to improve patients’ chances for a healthy, normal, and productive life. An ever-humble gentleman, publishing medical articles is his way to help many more patients than he ever could directly.

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