Freeman-Burian syndrome

Abstract

Clinical descriptionFreeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial folds. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus. Neuro-cognitive function is not impaired.EpidemiologyPopulation prevalence of FBS is unknown.AetiologyEnvironmental and parental factors are not implicated in pathogenesis. Allelic variations in embryonic myosin heavy chain gene are associated with FBS. White fibrous tissue within histologically normal muscle fibres and complete replacement of muscle by fibrous tissue, which behaves like tendinous tissue, are observed.ManagementOptimal care seems best achieved through a combination of early craniofacial reconstructive surgery and intensive physiotherapy for most other problems. Much of the therapeutic focus is on the areas of fibrous tissue replacement, which are either operatively released or gradually stretched with physiotherapy to reduce contractures. Operative procedures and techniques that do not account for the unique problems of the muscle and fibrous tissue replacement have poor clinical and functional outcomes. Important implications exist to facilitate patients’ legitimate opportunity to meaningfully overcome functional limitations and become well.

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

“…21 A comprehensive review of FBS is beyond the scope of this discussion. As part of this decadelong effort to clarify the descriptor, 1 definition, classification, 2 and clinical care framework for FBS, broad, 17 and focused [18][19][20] discussions, and a meta-analysis 22 covering FBS have been published. Neither the sponsor (Freeman-Sheldon Research Group, Inc.) nor any institution has had any role in protocol development or associated activities.…”

“…A comprehensive review of FBS 17 and discussions on diagnosis, evaluation, craniofacial, 18 dentofacial and otorhinolaryngology, 19 and anesthetic 20 management have been published elsewhere. Though most patients are diagnosed at birth or in early childhood, this discussion is relevant to all patients with FBS.…”

Epidemiology, prevention, diagnosis, treatment, and outcomes for psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions: a systematic review protocol of qualitative data

“…1), formerly Freeman-Sheldon syndrome [8]. FBS is a rare congenital myopathic craniofacial syndrome [9], about which relatively little is known, and with the exception of our recently published anaesthesia recommendations [10], no clinical guidelines are available. Considerable clinical variability in severity is observed in FBS patients, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H- or V-shaped chin defect, and prominent nasolabial folds (Fig.…”

“…Considerable clinical variability in severity is observed in FBS patients, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H- or V-shaped chin defect, and prominent nasolabial folds (Fig. 1) [11]. Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus (Fig.…”

“…Some patients do not have limb malformations, but essentially all do, typically camptodactyly with ulnar deviation of the hand and talipes equinovarus (Fig. 1) [11]. Because no substantial scholarship exists on psychosocial influences in the lives of patients with FBS and their families [11], information from other craniofacial malformation disorders will serve to inform clinical decision-making in concert with the few case reports that mention psychosocial aspects of patient’s lives and our experience.

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