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

Aidin  Arabzadeh; Hossein  Azaditalab; Hesam  Alitaleshi; Mohammadreza  Abbaszadeh

doi:10.18502/jost.v10i4.17370

Aidin Arabzadeh Assistant Professor, Department of Orthopedics, Tehran University of Medical Sciences, Tehran, Iran
Hossein Azaditalab Hand Surgery Fellowship, Department of Orthopedic Surgery, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
Hesam Alitaleshi Hand Surgery Fellowship, Department of Orthopedic Surgery, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
Mohammadreza Abbaszadeh Hand Surgery Fellowship, Department of Orthopedic Surgery, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran

DOI: https://doi.org/10.18502/jost.v10i4.17370

Keywords: Craniocarpotarsal Dysplasia; Freeman-Burian Syndrome; Freeman-Sheldon Syndrome; Whistling Face Syndrome

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.