Freeman-Burian syndrome.

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 an

SUBMITTER: Poling MI 

PROVIDER: S-EPMC6327538 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature