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Dr Dufresne describes a streamlined diagnosis framework for Freeman-Burian syndrome and important pitfalls in evaluation & treatment counseling.

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Medical Journal Article on Freeman-Burian Syndrome Published Detailing Diagnosis and Principles of Care


Date: 12 Nov 2019

The office of Dr Craig R Dufresne, MD, FACS, FICFS, is excited to announce the recent publication of, “Identification and Recent Approaches for Evaluation, Operative Counseling, and Management for Patients with Freeman-Burian syndrome: Principles for Global Treatment,” in the current November-December 2019 issue of the Journal of Craniofacial Surgery.

This groundbreaking article describes a streamlined methodology for and highlights important pitfalls in the diagnosis, evaluation, and treatment counseling considerations for Freeman-Burian syndrome. An overview of possible skull and facial problems that may require surgery is also presented. 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 and best practices. In two articles published last year in the Cleft Palate-Craniofacial Journal and the Journal of Craniofacial Surgery, Dr Dufresne presented evidence for the reclassification of the condition and its renaming from Freeman-Sheldon syndrome to Freeman-Burian syndrome, in an effort 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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