Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment.

For many, the experience of a complex craniofacial malformation condition, such as Freeman-Burian syndrome (FBS), formerly Freeman-Sheldon syndrome, is deeply distressing. There are few references in the literature addressing initial evaluation and operative counseling for FBS, and guidance is absent. Two major outcomes of FBS are explored, namely diagnostic accuracy and therapeutic result, to identify factors influencing optimal clinical care in (1) diagnosis, (2) evaluation, (3) general and craniofacial operative counseling, and (4) craniofacial management.PubMed searches have yielded 15 results describing craniofacial surgery in FBS and 29 manuscripts describing psychosocial aspects of surgery and patient and family counseling and education in other non-intellectually impairing craniofacial malformation conditions. Research in this area of scholarship is plagued by problems, especially considerable knowledge gaps and an absence of study data for operative outcomes. As a result, the literature remains unsettled, though our experience presents a much more clear picture of the clinical reality for this challenging patient population. While many challenges and limitations to treatment are present, much can be done to afford these patients a good and productive quality of life through operative intervention and longitudinal psychosocial support.

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.

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.

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

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.

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.

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.