Treatment results of teratologic arthrogryposis in a case of Freeman-Sheldon syndrome

Abstract

Freeman-Sheldon syndrome (FSS) is a very rare genetic disorder, also called “whistling-face syndrome.” Patients with this condition have distinctive facial appearance of small mouth and pursed lips, and skeletal malformations such as talipes equinovarus, hip dysplasia, camptodactyly, and scoliosis. The reports for the arthrogryposis of such cases by management are rare. A 2-year-old girl with FSS presented with hypertelorism, increased philtrum length, small nose and nostrils, and pursed lips, with skeletal deformities including (1) bilateral windmill vane hands, (2) bilateral rigid talipes equinovarus, and (3) bilateral high riding hip dislocation. To provide the patient with a pair of plantigrade feet for future standing, we performed a bilateral clubfoot soft tissue release and total talectomy with tibiocalcaneal fusion. For the bilateral high riding hip dislocation, we chose the nonoperative treatment by rehabilitation, given that the pelvis was relatively stable and in a leveled position. At the 25-year follow-up, she walked independently with mild waddling gait without support, on a stable, plantigrade foot. From the outcome, performing radical soft-tissue release with talectomy to obtain a plantigrade foot and conservative treatment for the bilateral hip dislocation to ensure a leveled pelvis may be a proper option for such cases.