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Dr Dufresne highlights oral health, hearing loss, upper respiratory, swallowing, & speech concerns & treatment 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.

Medical Journal Article on Freeman-Burian Syndrome Published Detailing Dental and Ear, Nose and Throat Principles of Care


Date: 28 Jan 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 Dentofacial and Otolaryngologic Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment,” by the Journal of Craniofacial Surgery online ahead-of print.

This article discusses dental and oral health concerns, hearing loss, upper respiratory concerns, swallowing problems, and speech impairment associated with Freeman-Burian syndrome and highlights important pitfalls in medical and surgical treatment of Freeman-Burian syndrome. Written from the perspective of a specialist plastic surgeon, it includes extensive useful information for all who may interact with this challenging patient population. 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 clinical practice recommendations for anesthesia care in Freeman-Burian syndrome earlier this year, this article is based on Dr Dufresne’s decades of clinical experience and the latest literature. 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.

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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