Diagnosis and Management of Freeman-Burian Syndrome: A Case Report
Year: 2024
Type: article
Study design: Case Report
Abstract: 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.
Authors: Aidin Arabzadeh, Hossein Azaditalab, Hesam Alitaleshi, Mohammadreza Abbaszadeh
Institutions: Tehran University of Medical Sciences, Imam Khomeini Hospital
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4405859187