Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman-Burian Syndrome: Principles for Global Treatment

Abstract

Freeman-Burian syndrome, formerly Freeman-Sheldon syndrome, is a rare congenital complex myopathic craniofacial syndrome that frequently involves extremity joint deformities, abnormal spinal curvatures, and chest wall mechanical problems that, together with spinal deformities, impair pulmonary function. As part of a clinical practice guideline development, we evaluated 19 rehabilitation-related articles from our formal systematic review, and from these and our experience, we describe rehabilitation considerations. Research in this area has widespread methodologic problems. While many challenges are present, much can be done to afford these patients a good quality of life through careful planning.

Keywords: Freeman–Burian syndrome; Freeman–Sheldon syndrome; craniofacial deformities; distal arthrogryposis; limb deformities; talipes equinovarus; whistling face syndrome.

Conflict of interest statement

Conflict of Interest None declared.

© Thieme Medical Publishers.

Figures

Fig. 1

Patient, age 21 (A) and 32 (B, C) years, with a typical presentation of Freeman–Burian syndrome. The required features of microstomia, whistling-face appearance (pursed lips), H-shaped chin defect, prominent nasolabial folds, bilateral camptodactyly, ulnar deviation, and equinovarus (not visible) were clearly demonstrated. Unsuccessful operative equinovarus correction, at age 6 years, rendered the patient nonambulatory until fitted with prostheses, at age 21 years (A). While the patient had undergone commissuroplasties, lower lip revision, chin augmentation, and sling attachment to the epicranius frontalis to ameliorate the blepharoptosis, she gained minimal aesthetic and functional improvement (B). Her hands were never treated operatively, and limited nonoperative treatment that was showing improvement was abandoned over nonclinical problems (C). Our patient’s case has been described elsewhere, and this figure has appeared elsewhere.

Fig. 2

Feet of same patient, aged 21 years, who demonstrates a typical presentation of Freeman–Burian syndrome with bilateral equinovarus and metatarsus varus showing operative modification and full-thickness skin grafting. This figure has appeared elsewhere.