Diagnosis and Management of Freeman-Burian Syndrome: A Case Report

Background: Freeman-Burian syndrome (FBS) is a rare genetic disorder characterized by facial deformities, arthrogryposis, and difficulties in orthopedic management. Case Report: A case study of a nine-month-old female patient with FBS is presented, who exhibited facial abnormalities and contractures...

Full description

Saved in:
Bibliographic Details
Published in:Journal of orthopedic & spine trauma 2024-12, Vol.10 (4)
Main Authors: Arabzadeh, Aidin, Azaditalab, Hossein, Alitaleshi, Hesam, Abbaszadeh, Mohammadreza
Format: Article
Language:English
Subjects:
Keywords: Craniocarpotarsal dysplasia
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Freeman-Sheldon syndrome
Whistling face syndrome
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background: Freeman-Burian syndrome (FBS) is a rare genetic disorder characterized by facial deformities, arthrogryposis, and difficulties in orthopedic management. Case Report: A case study of a nine-month-old female patient with FBS is presented, who exhibited facial abnormalities and contractures of the hands and feet. Non-operative treatment, including stretching, massage, and splinting, was initially advised. At nine months, bilateral Achilles tenotomy was performed under local anesthesia due to anesthetic risks. Serial casting and bracing were used to maintain the correction. Conclusion: The authors recommend prompt treatment, especially with non-operative methods, and early training of parents in non-operative therapy for optimal results, as multiple surgeries and anesthetic complications can lead to suboptimal outcomes. Massage, stretching, and achieving stable plantigrade feet are crucial for independent walking in patients with FBS.
ISSN:2538-2330
2538-4600
DOI:10.18502/jost.v10i4.17370