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Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
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Freeman-Burian syndrome.

Mikaela I Poling1, Craig R Dufresne2, Robert L Chamberlain3

  • 1FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, USA. poling_mi@fsrgroup.org.

Orphanet Journal of Rare Diseases
|January 12, 2019
PubMed
Summary
This summary is machine-generated.

Freeman-Burian syndrome (FBS) is a rare congenital condition affecting facial structure and limbs. Management involves early surgery and physiotherapy to address fibrous tissue replacement and contractures.

Keywords:
Craniocarpotarsal dysplasiaCraniocarpotarsal dystrophyCraniofacial syndromeDistal arthrogryposisDistal arthrogryposis type 2AEmbryonic myosin heavy chainFreeman-Sheldon syndromeWhistling face syndrome

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Area of Science:

  • Genetics and developmental biology
  • Craniofacial and orthopedic surgery
  • Rare disease research

Background:

  • Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial disorder.
  • Characterized by microstomia, a whistling-face appearance, chin defects, and prominent nasolabial folds.
  • Limb malformations, including camptodactyly and talipes equinovarus, are common, while neuro-cognitive function remains unimpaired.

Purpose of the Study:

  • To describe the clinical presentation, etiology, and management of Freeman-Burian syndrome.
  • To highlight the genetic basis and pathological muscle changes in FBS.
  • To outline optimal therapeutic strategies for improving functional outcomes in patients with FBS.

Main Methods:

  • Clinical case review and analysis of diagnostic criteria for FBS.
  • Histopathological examination of muscle tissue to identify characteristic fibrous tissue replacement.
  • Review of surgical and physiotherapy interventions used in managing FBS patients.

Main Results:

  • FBS diagnosis relies on specific craniofacial features and frequent limb malformations.
  • Pathology reveals white fibrous tissue within muscle fibers and complete muscle replacement by tendinous-like fibrous tissue.
  • Effective management integrates early craniofacial surgery with intensive physiotherapy targeting fibrous contractures.

Conclusions:

  • Freeman-Burian syndrome is a distinct congenital myopathic disorder with a genetic basis.
  • Successful treatment necessitates specialized surgical and rehabilitative approaches addressing the unique tissue pathology.
  • Early and comprehensive management is crucial for optimizing functional outcomes and patient well-being.