Freeman-Burian syndrome

Mikaela I Poling, Craig R Dufresne, Robert L Chamberlain, Mikaela I Poling, Craig R Dufresne, Robert L Chamberlain

Abstract

Clinical description: Freeman-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.

Epidemiology: Population prevalence of FBS is unknown.

Aetiology: Environmental 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.

Management: Optimal 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.

Keywords: Craniocarpotarsal dysplasia; Craniocarpotarsal dystrophy; Craniofacial syndrome; Distal arthrogryposis; Distal arthrogryposis type 2A; Embryonic myosin heavy chain; Freeman-Sheldon syndrome; Whistling face syndrome.

Conflict of interest statement

Authors’ information

MIP is Research Assistant in the Department of Applied Physiology, FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, WV, USA. CRD is Clinical Professor of Plastic Surgery in the Department of Surgery, Georgetown University, Washington, DC, USA.

Ethics approval and consent to participate

Sponsored by Freeman-Sheldon Research Group, Inc., this review received institutional review board approval from FSRG IRB #1.

Consent for publication

Informed consent from the patient pictured was obtained.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Child aged 1 year and 8 months with a typical presentation of Freeman-Burian syndrome (FBS). In addition to required features of microstomia, whistling-face appearance (pursed lips), H-shaped chin defect, prominent nasolabial folds, bilateral camptodactyly, ulnar deviation, metatarsus varus, and equinovarus, the patient exhibits numerous other craniofacial stigmata of FBS, including: blepharophimosis and blepharptosis, small nose, alar naris hypoplasia, lengthened phitrum, symmetrical midface hypoplasia, and micrognathia. Notice the child demonstrates age appropriate explorative behaviour indicative of normal cognition

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