CORRESPONDENCE Year : 2022  |  Volume : 55  |  Issue : 5  |  Page : 198

Reply to “arthrogryposis and diagnosis in Freeman-Burian syndrome”

Tsung-Mu Wu, Lin-Shaw Chin
Department of Orthopedic, Chi-Mei Medical Center, Tainan, Taiwan

Date of Submission07-Jun-2022Date of Acceptance07-Jun-2022Date of Web Publication26-Sep-2022

Correspondence Address:
Lin-Shaw Chin
No. 901, Zhonghua Road, Yongkang Dist., Tainan City
Taiwan

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/fjs.fjs_126_22

How to cite this article:
Wu TM, Chin LS. Reply to “arthrogryposis and diagnosis in Freeman-Burian syndrome”. Formos J Surg 2022;55:198

Dear Editor,

We thank Dr. Poling and Dr. Dufresne and his colleagues for their interest and comments about our study. Here are our replies:

From the clinical aspect, the patient fully fitted the strict criteria of Freeman-Sheldon syndrome DA2B, the more severe type which treatment is less effective.[1]

The patient's saliva was send for genetic study and revealed positive result of pathogenic variant MYH3 c.1620G > A heterozygous and RTTN c. 1123C > T heterozygous gene mutation.

Talectomy with regional flap treatment for severe, recurrent, teratologic clubfoot is a very rare salvage surgical procedure clinically. The patient eventually have gained a functional plantigrade foot after the surgery.

Volatile anesthesia-induced malignant hyperthermia has been reported in some arthrogryposis patients. However, there are no increased odds of intraoperative malignant hyperthermia.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 

  References 
1.Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 1996;65:277-81.