Genetic Alliance & the National Organization for Rare Disorders revised their articles on Freeman-Burian syndrome, a rare craniofacial disorder, based on Dr Dufresne’s work.
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Premier National Organizations for Genetic and Rare Disorders Update Their Medical Encyclopedias’ Entry on Rare Craniofacial Disorder
FOR IMMEDIATE RELEASE
Date: 10 Sept 2021
FAIRFAX—Recently, Genetic Alliance and the National Organization for Rare Disorders, two premier national organizations for genetic and rare disorders, updated their online encyclopedias’ entry on Freeman-Burian syndrome (FBS) with information provided by Dr Craig R Dufresne, a Washington, DC area plastic surgeon in private practice. Dufresne has written extensively about FBS – formerly, Freeman-Sheldon syndrome – and other craniofacial deformities and is considered one of the world’s leading experts, having cared for affected patients since the mid-1980s. Genetic Alliance updated its Disease Info Search description of FBS based on Dufresne’s work on 25 August. The National Organization for Rare Disorders published Dufresne’s report on FBS in their Rare Disease Database by 10 September.
The information for laypersons is the culmination of over a decade of work. It encompasses all of Dufresne’s work establishing guidelines for the care of patients with FBS, his published explanatory articles discussing evidence and experience in these areas of care, and his background publications on the nature and classification of 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 and is unique in many other ways. Except for some genetic studies done by other labs, the understanding of FBS, approach to care, and patient outcomes have remained relatively unchanged since FBS’s first description in the medical literature in 1938. It’s Dufresne’s hope wider dissemination of accurate and up-to-date information will encourage a total paradigm shift and herald a new era of vastly improved patient care and greater understanding of FBS by patients, families, and others.
For Dufresne, writing about rare conditions is all about educating scientists, physicians, care teams, family members, and patients to improve patients’ chances for a healthy, normal, and productive life. An ever-humble gentleman, publishing medical articles is his way to help many more patients than he ever could directly.
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.