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Freeman-Burian syndrome.
Orphanet J Rare Dis 2019; 14(1):14OJ

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.

Authors+Show Affiliations

FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, USA. poling_mi@fsrgroup.org.Department of Surgery, Georgetown University, Washington, DC, USA.FSRG deGruyter-McKusick Institute of Health Sciences, Buckhannon, USA.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

30630514

Citation

Poling, Mikaela I., et al. "Freeman-Burian Syndrome." Orphanet Journal of Rare Diseases, vol. 14, no. 1, 2019, p. 14.
Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis. 2019;14(1):14.
Poling, M. I., Dufresne, C. R., & Chamberlain, R. L. (2019). Freeman-Burian syndrome. Orphanet Journal of Rare Diseases, 14(1), p. 14. doi:10.1186/s13023-018-0984-2.
Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian Syndrome. Orphanet J Rare Dis. 2019 01 10;14(1):14. PubMed PMID: 30630514.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Freeman-Burian syndrome. AU - Poling,Mikaela I, AU - Dufresne,Craig R, AU - Chamberlain,Robert L, Y1 - 2019/01/10/ PY - 2018/06/08/received PY - 2018/12/21/accepted PY - 2019/1/12/entrez PY - 2019/1/12/pubmed PY - 2019/5/7/medline KW - Craniocarpotarsal dysplasia KW - Craniocarpotarsal dystrophy KW - Craniofacial syndrome KW - Distal arthrogryposis KW - Distal arthrogryposis type 2A KW - Embryonic myosin heavy chain KW - Freeman-Sheldon syndrome KW - Whistling face syndrome SP - 14 EP - 14 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 14 IS - 1 N2 - 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. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/30630514/Freeman_Burian_syndrome_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0984-2 DB - PRIME DP - Unbound Medicine ER -