CORRESPONDENCE Year : 2022  |  Volume : 55  |  Issue : 5  |  Page : 196-197

Arthrogryposis and diagnosis in Freeman‒Burian syndrome

Mikaela I Poling1, Craig R Dufresne2
1 Department of Surgery, Virginia Commonwealth University, Richmond, Virginia, USA
2 Department of Surgery, Virginia Commonwealth University, Richmond; Research Department, Craig R Dufresne, MD, PC, Fairfax, Virginia, USA

Date of Submission18-Jan-2022Date of Decision18-Feb-2022Date of Acceptance31-Mar-2022Date of Web Publication26-Sep-2022

Correspondence Address:
Mikaela I Poling
8501 Arlington Blvd, Suite 420, Fairfax, Virginia 22031
USA

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/fjs.fjs_14_22

How to cite this article:
Poling MI, Dufresne CR. Arthrogryposis and diagnosis in Freeman‒Burian syndrome. Formos J Surg 2022;55:196-7

Dear Editor,

We read with interest an article published in your journal, “Treatment results of teratologic arthrogryposis in a case of Freeman‒Sheldon syndrome: A 25-year follow-up,” by Wu and Chin.[1] It is wonderful to see this syndrome correctly identified. Unfortunately, there were several unclear or inaccurate points, and recent publications were omitted, suggesting an incomplete literature search.[1],[2],[3],[4] As Freeman‒Sheldon syndrome, now Freeman‒Burian syndrome (FBS), is exquisitely rare, many who believe that they have encountered it in clinical practice are eager to publish their experience, despite the risks.[3],[4]

Photographs in the article show that the patient met the diagnostic craniofacial criteria (microstomia, pursed lips, deep nasolabial folds, and H- or V-shaped chin defect), which are pathognomonic for FBS, and the arthrogrypotic criteria (typically, camptodactyly with ulnar deviation and equinovarus).[1],[3],[5] The authors, however, describe their patient as having hypertelorism, an increased philtrum length, small nose and nostrils, pursed lips, bilateral windmill vane hand, bilateral talipes equinovarus, and bilateral hip dislocation.[1] While these features were present in their patient, this description does not align with the diagnostic criteria.[1],[3],[5] Listing findings not pertinent to an FBS diagnosis, while at the same time not describing what findings the patient had that allowed them to satisfy the FBS diagnostic criteria, can confuse the reader unfamiliar with FBS.

In the abstract, the authors describe FBS as typified by, “distinctive facial appearance of small mouth and pursed lips, and skeletal malformations such as talipes equinovarus, hip dysplasia, camptodactyly, and scoliosis.”[1] Later, they seem to refer to FBS as an arthrogryposis.[1] While FBS has had many classifications since its first description in 1938, it appears to be a congenital myopathic complex craniofacial syndrome, as arthrogrypotic findings are not pathognomonic for FBS.[4] In the syndrome, “skeletal malformations” are secondary effects of the primary myopathic process of fibrous tissue replacement of normal muscle fibers.[4] This fibrous tissue acts as constricting bands, the way collagen behaves in severe burns.[4] This clinical experience is correlated with in vitro molecular myophysiology observations showing problems with the metabolic process for contraction and extreme muscle stiffness that reduces muscular work and power.[4] Misunderstanding of etiology in FBS has led to inappropriate treatment plans, especially surgeries, and has resulted in tragic, lifelong impairments.[2],[4] As such, it is exceedingly rare for the types of operative hand and foot therapies described in this article to be helpful in FBS.

Finally, the authors seem to suggest an apparent association of malignant hyperthermia with FBS.[1] Some patients with FBS do, indeed, develop hyperpyrexia during general anesthesia, but these hyperpyrexia events, which may include tachycardia and increased muscle rigidity, respond to ibuprofen and occur where a malignant hyperthermia protocol was followed and in stressful, nonoperative situations.[4]

This is the eighth case report we have found that was published in the past 2 years and the fifth to which we have responded, with three letters already published. All case reports included similar errors that could have been prevented by conducting a thorough literature search and citing recent articles. While problematic in several ways, this article illustrates the risks of describing a rare disease.

Acknowledgments

We thank CM Poling, MS, for proofreading, MR Novak for discussion and encouragement, and M Pócket, LC Kesling, and ES Tu for technical assistance. This manuscript is dedicated to the memory of Calvin Yang, formerly of the 2nd Battalion, 27th Infantry Regiment “Wolfhounds” of the US Army, who lost his life to complications of posttraumatic stress disorder several years after serving.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 

  References 
1.Wu TM, Chin LS. Treatment results of teratologic arthrogryposis in a case of Freeman-Sheldon syndrome: A 25-year follow-up. Formos J Surg 2021;54:66-9.  
  [Full text]  2.Poling MI, Dufresne CR, McCormick RJ. Identification and recent approaches for evaluation and management of rehabilitation concerns for patients with Freeman-Burian syndrome: Principles for global treatment. J Pediatr Genet 2020;9:158-63.  
    3.Poling MI, Dufresne CR, Chamberlain RL. Findings, phenotypes, diagnostic accuracy, and treatment in Freeman-Burian syndrome. J Craniofac Surg 2020;31:1063-9.  
    4.Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis 2019;14:14.  
    5.Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 2006;117:754-62.