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Dr Dufresne dispels myths about Freeman-Burian syndrome, a rare craniofacial disorder, in four preprint articles responding to four articles.

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.

Fact-Checking Articles Published Online Address Common Myths About Freeman-Burian syndrome


Date: 02 Feb 2022

FAIRFAX—Following his publication last year of three letters-to-editor responding to error-laden medical journal articles on Freeman-Burian syndrome (FBS) (previously, Freeman-Sheldon syndrome), Dr Craig R Dufresne published four preprint articles on Authorea, fact-checking yet more previously published medical journal articles. Dufresne, a world-renowned rare disease specialist and DC area plastic surgeon, has decades of experience caring for patients and writing about 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.

January 26, 2022, “Unsafe Care and Misunderstanding Diagnosis in Freeman-Burian syndrome: Problems in Writing Case Reports Involving Rare Conditions and Strategies for Improvement,” was published in response to a June 2021 article describing local anesthesia with intravenous sedation for a dental extraction. Dufresne’s preprint provides a summary of common problems in case reports on rare diseases and strategies for avoiding errors in these types of medical journal articles. 

January 31, 2022, “Obstetrics and Diagnosis in Freeman-Burian syndrome,” was published in response to a 2021 article discussing general anesthesia for Emergent Cesarean delivery in a patient with FBS experiencing preeclampsia and multiple pulmonary complications. Also on January 31, “Misinformation and Misdiagnosis in Freeman-Burian syndrome,” was published in response to a November 2021 article describing non-surgical treatment for hand and knee deformities. Finally, “Limb Deformity Treatment and Diagnosis in Freeman-Burian syndrome,” was published on February 2, 2022, in response to a May 2021 article discussing the treatment of deformities of the hands and feet.

Preprints are freely available articles but have not been critically evaluated by other doctors and editors. Preprints typically contain information authors wish to make public quickly, without waiting for a medical journal to finish processing their article. It’s Dufresne’s hope wider dissemination of accurate and up-to-date information will improve patient care.

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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