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

Abstract

Abstract: Introduction: Freeman Sheldon syndrome is a rare genetic disease of varying severity with craniocarpotarsal manifestations, which has many difficulties in orthopedic management also anaesthetic concerns about intubation difficulties and malignant hyperthermia and mutch tendency of deformities for recurrence. Objective: Describe clinically manifestations of a patient with Freeman-Sheldon syndrome. Presentation of the case: An Iranian girl presents mask-like face, deep sunken eyes,ptosis, wide nasal bridge, small mouth with the facial typical appearance of a whistler, dental crowding and high narrow palate, skin dimple on the chin in the shape of an H-shape and abnormally long philtrum. defect in the hands of typical windmill vane hand and clasped thumb deformity ,Resistant contracture of the fingers with ulnar deviation and bilateral rigid clubfoot, and failure to thrive. Conclusions: Freeman-Sheldon syndrome is a rare syndrome that mainly affects the face and upper and lower limbs of patients, whose clinical diagnosis is possible after a thorough physical examination. and it is best to start treatment without delay regarding future prognosis at least with nonoperative modalities.

Keywords

• Keywords: Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Freeman-Burian syndrome; Freeman-Sheldon syndrome; Whistling face syndrome