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Dr Dufresne’s new research shows Freeman-Burian syndrome is over-diagnosed and a craniofacial syndrome best diagnosed by plastic surgeons.

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.

Medical Journal Article Presents New Perspective on Freeman-Burian Syndrome and Highlights Ongoing Concerns for Diagnosis


Date: 12 Mar 2020

The office of Dr Craig R Dufresne, MD, FACS, FICFS, is excited to announce the groundbreaking publication of, “Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian syndrome: a Patient-Level Data Meta-Analysis of Unstructured Observational Clinical Studies,” by the Journal of Craniofacial Surgery online ahead-of print.

Based on comprehensive and structured analysis of virtually all published cases of patients with a stated diagnosis of Freeman-Burian syndrome, Dr Dufresne provides evidence that the syndrome is (1) over-diagnosed in one to two-thirds of cases; (2) consists of 3 sub-types; and (3) more often correctly diagnosed by plastic surgeons and anesthesiologists than geneticists, pediatricians, or orthopedists. The article also illuminates the absence of evidence on treatment, psychosocial considerations, and longitudinal outcomes. This article is part of a decade-long effort to clarify the definition, classification, and clinical care framework for Freeman-Burian syndrome.

Following the first-of-its-kind recommendations for anesthesia care; diagnosis, evaluation, and medical and craniofacial care; and dental and otorhinolaryngology concerns in Freeman-Burian syndrome, this article pushes into new territory and further justifies his earlier articles urging reclassification of the condition as a craniofacial syndrome and its renaming from Freeman-Sheldon to Freeman-Burian syndrome.

Dr Dufresne’s office has also contributed the definition for the syndrome to the upcoming 11th Edition of the International Classification of Disease, a numerical catalog published by the World Health Organization used for medical billing, healthcare operations, and research.

Freeman-Burian syndrome is rare, affecting an estimated 200 or fewer patients worldwide, and primarily affects skull and face development before birth, due to impaired muscle function. Patients have a mask-like and whistling-face appearance. Severity of impairment varies widely, but intelligence is normal. Many patients have limited joint movement, scoliosis, and respiratory and gastrointestinal problems. Accurate diagnosis is critical to survival and long-term outcomes.

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.


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