Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features

Abstract

Described are previously unreported features presenting in a case of Freeman-Sheldon syndrome (FSS); these apparently unreported features may substantively inform current therapy and further research. While considered to be primarily a craniofacial syndrome, FSS is officially described as a myopathic distal arthrogryposis. Clinical diagnosis requires microstomia, whistling-face appearance (pursed lips), H-shaped chin dimpling, nasolabial folds, and two or more contractures of hands and feet. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, and visual and auditory impairments are frequent findings. Differential diagnoses include: distal arthrogryposis type 1, 2B (Sheldon-Hall syndrome) and 3; arthrogryposis multiplex congenita and isolated non-syndromic deformities. Expression is frequently from new allelic variation. Important implications exist for geneticists, neonatologists, paediatricians, plastic surgeons and others to facilitate patients' legitimate opportunity to meaningfully overcome functional limitations and become well. Despite complexities and complications, early craniofacial surgery and aggressive physiotherapy for limb contractures can achieve excellent outcomes for patients.

2015 BMJ Publishing Group Ltd.

Figures

Figure 1

Photograph of the patient (front right) and her family (normal phenotypes).

Figure 2

Photograph before surgeries, at 2 years of age. The patient was told to smile and used her hands to push oral commissures upward, as hypoplastic facial musculature reduced ability to physiologically smile.

Figure 3

Comparison craniofacial (A and B) frontal and (D and E) lateral photographs (ages 2 and 20 years) and (C) frontal and (F) lateral CT images (22 years) showing Freeman-Sheldon syndrome associated physical features.

Figure 4

Palmar view of right (A) and radial view of left (B) hand showing characteristic arthrogryposis-type features, and frontal photograph and CT image of legs and feet showing considerable surgical modification (C, D). 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. 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). Notice bilateral patellar subluxation with extension and tibiofemoral joint flexion contracture. There is also an approximately 30° lateral deviation from the origin of the quadriceps to patellar tendon insertion on the tibial tuberosity.

Figure 5

Plain chest radiographs (A) anterior-posterior and (B) lateral showing new and previously associated Freeman-Sheldon syndrome physical features. For the anterior-posterior view, the patient was seated to eliminate bias from uneven lower extremity length. Cobb’s angle for scoliosis, which showed a maximum curvature at 9th and 10th ribs; lordosis extending from T1 to sacrum; and length of hyperintense opacified vertical ridge following the right dorsal mid-clavicular line from the inferior scapular border to the inferior costal margin, are marked.

Figure 6

12-Lead resting ECG at 29 years of age showing sinus tachycardia of 109 bpm, right axis deviation and somewhat spiking T waves, all suggestive of right heart strain. Recording was made after the patient had been resting in the supine position >15 min and had not been engaged in strenuous physical activity. There is some artefact due to poor electrodes. Notably, 12-lead ECG monitoring, at the time this recording was made, showed rapidly varying heart rate of 82–215 bpm.

Figure 7

Transverse CT demonstrating thyroid and cricoid hypoplasia.