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Freeman-Burian syndrome

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 fold...

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Autores principales: Poling, Mikaela I., Dufresne, Craig R., Chamberlain, Robert L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327538/
https://www.ncbi.nlm.nih.gov/pubmed/30630514
http://dx.doi.org/10.1186/s13023-018-0984-2
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author Poling, Mikaela I.
Dufresne, Craig R.
Chamberlain, Robert L.
author_facet Poling, Mikaela I.
Dufresne, Craig R.
Chamberlain, Robert L.
author_sort Poling, Mikaela I.
collection PubMed
description 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.
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spelling pubmed-63275382019-01-15 Freeman-Burian syndrome Poling, Mikaela I. Dufresne, Craig R. Chamberlain, Robert L. Orphanet J Rare Dis Review 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. BioMed Central 2019-01-10 /pmc/articles/PMC6327538/ /pubmed/30630514 http://dx.doi.org/10.1186/s13023-018-0984-2 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
Poling, Mikaela I.
Dufresne, Craig R.
Chamberlain, Robert L.
Freeman-Burian syndrome
title Freeman-Burian syndrome
title_full Freeman-Burian syndrome
title_fullStr Freeman-Burian syndrome
title_full_unstemmed Freeman-Burian syndrome
title_short Freeman-Burian syndrome
title_sort freeman-burian syndrome
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327538/
https://www.ncbi.nlm.nih.gov/pubmed/30630514
http://dx.doi.org/10.1186/s13023-018-0984-2
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