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Dr Dufresne publishes the first-ever rehabilitation guidelines for Freeman-Burian syndrome, focusing on joints, spine, & cardiopulmonary issues.

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 on Freeman-Burian Syndrome Published Detailing Rehabilitation Principles of Care


Date: 11 May 2020

The office of Dr Craig R Dufresne, MD, FACS, FICFS, is excited to announce the groundbreaking publication of, “Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment,” by the Journal of Pediatric Genetics online ahead-of print.

This article details rehabilitation concerns involving hand, foot, and other joint deformities; abnormal spinal curvatures; and cardiopulmonary complications associated with Freeman-Burian syndrome and highlights important pitfalls in treatment of Freeman-Burian syndrome. Written from a multi-disciplinary perspective, it includes extensive useful information for all who may interact with this challenging patient population. The article also illuminates the absence of evidence on treatment, cardiopulmonary testing, and longitudinal outcomes. The 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, offering structured advice to improving patients lives and avoiding serious harm that can result from applying standard therapeutic protocols to the care of patients with Freeman-Burian syndrome.

In two articles published last year in the Cleft Palate-Craniofacial Journal and the Journal of Craniofacial Surgery, Dr Dufresne presented evidence for reclassification of the condition and its renaming from Freeman-Sheldon to Freeman-Burian syndrome, to improve diagnosis and reduce confusion with the similar-appearing Sheldon-Hall syndrome.

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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