Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman–Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction

Abstract

The authors describe the surgical approach, findings, and 8-year follow-up in a 29-year-old woman, with severe Freeman-Sheldon syndrome, presenting with congenital blepharophimosis of both upper eyelids resulting in near-complete functional visual obstruction. To avoid possible Freeman-Sheldon syndrome-associated complications of malignant hyperthermia, difficult vascular access, and challenging endotracheal intubation, the surgery was completed under local anesthesia without sedation, and anatomical and functional correction was immediate and remained stable at 8-year follow-up. Unlike many congenital craniofacial syndromes, which frequently involve life-long impairments, important implications exist for plastic surgeons to facilitate opportunities for patients to overcome functional limitations.

Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism

“…However, they reported an increase in central nuclei, suggesting possible necrosis and muscle regeneration. Interestingly, while Portillo et al discerned normal tissue architecture in a biopsy of a DA2A patient's right vastus medialis, they observed fibrous and adipose tissues with no skeletal muscle in biopsies of the obicularis oculi [40].…”

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

“…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, 13,40 and this figure has appeared elsewhere. 40…”

“…6,12 In patients with FBS, white fibrous tissue within histologically normal muscle fibers and complete replacement of muscle by fibrous and adipose tissues are observed operatively. 13 In some areas, entire muscles are grossly and histologically normal. 13 The areas of fibrous tissue replacement behave like tendinous tissue, which is often released to reduce the contractures.…”

“…13 In some areas, entire muscles are grossly and histologically normal. 13 The areas of fibrous tissue replacement behave like tendinous tissue, which is often released to reduce the contractures. These operative findings correlate well with in vitro molecular myophysiology observations that show problems with the metabolic process for contraction and extreme muscle stiffness that reduces muscular work and power.…”

Freeman-Burian syndrome

“…The current FBS diagnostic criteria is based on physical findings [16], and there is strong agreement with associated MYH3 allelic variations [10]. The presence of a group of craniofacial physical findings (whistling face, microstomia, prominent nasolabial folds, and H- or V-shaped chin defect) is pathognomonic for FBS, with the presence or absence of limb deformities being secondary and non-diagnostic factors [2].…”