Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years

Abstract

We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. Having presented as an infant to a university referral centre, passive correction was not accompanied by strengthening exercises, and correction was lost. FSS is described as a myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling face appearance, H-shaped chin dimpling, nasolabial folds, and multiple hand and foot contractures. Spinal deformities, metabolic and gastroenterological problems, other craniofacial characteristics, and visual and auditory impairments, are frequent findings. To avoid possible FSS-associated complications of malignant hyperthermia and difficult intubation, and to reduce or eliminate need for surgery, we proceeded with passive manipulation without anaesthesia or sedation. We believe this is the first report of attempted non-operative correction of multiple hand and wrist contractures in an adult with FSS.

2015 BMJ Publishing Group Ltd.

Figures

Figure 1

Patient at age 2 years responding to parental request to ‘smile’ by pushing her oral commissures up. Deformities of the hands are clearly visible.

Figure 2

Frontal photograph at the age of 21 years, illustrating classic Freeman-Sheldon syndrome (FSS) craniofacial features.

Figure 3

Lateral view of left (A) and right (B) hand in maximal active extension of interphalangeal joints showing characteristic DA-type features. Notice symmetrical appearance of hands with classic arthrogryposis features. There is minimal active extension of all digits, but grip is fair. There is severe adduction and overlapping of digits one and two.

Figure 4

Legs and feet showing considerable surgical modification. In the ankle-foot complex, there is ankylosis of the talocrural joint (left 160°; right 100°) and metatarsals 2–4. Weight bearing is on the anterolateral foot (proximal interphalangeal joints).

Figure 5

Medial views of hand-wrist complexes showing angle reduction of radiocarpal hyperextension of the left hand, following initial therapy session of Trial 2.

Figure 6

Left hand showing improved extension of all digits, at 3 months after initiation of therapy during Trial 2. No therapy was carried out on the right, which is shown for comparison. The improved radiocarpal hyperextension angle of the left is not well appreciated in this view but was considerable, approximately 35°.

Figure 7

Patient demonstrating functional pincer-grasp holding a pocket computer sync cable with the distal aspect of her pollex apposing to the second and third digits, after 3 months of therapy during Trial 2.