Cargando…
A framework for the evaluation of patients with congenital facial weakness
There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028830/ https://www.ncbi.nlm.nih.gov/pubmed/33827624 http://dx.doi.org/10.1186/s13023-021-01736-1 |
_version_ | 1783676015384461312 |
---|---|
author | Webb, Bryn D. Manoli, Irini Engle, Elizabeth C. Jabs, Ethylin W. |
author_facet | Webb, Bryn D. Manoli, Irini Engle, Elizabeth C. Jabs, Ethylin W. |
author_sort | Webb, Bryn D. |
collection | PubMed |
description | There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01736-1. |
format | Online Article Text |
id | pubmed-8028830 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-80288302021-04-09 A framework for the evaluation of patients with congenital facial weakness Webb, Bryn D. Manoli, Irini Engle, Elizabeth C. Jabs, Ethylin W. Orphanet J Rare Dis Review There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01736-1. BioMed Central 2021-04-07 /pmc/articles/PMC8028830/ /pubmed/33827624 http://dx.doi.org/10.1186/s13023-021-01736-1 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Review Webb, Bryn D. Manoli, Irini Engle, Elizabeth C. Jabs, Ethylin W. A framework for the evaluation of patients with congenital facial weakness |
title | A framework for the evaluation of patients with congenital facial weakness |
title_full | A framework for the evaluation of patients with congenital facial weakness |
title_fullStr | A framework for the evaluation of patients with congenital facial weakness |
title_full_unstemmed | A framework for the evaluation of patients with congenital facial weakness |
title_short | A framework for the evaluation of patients with congenital facial weakness |
title_sort | framework for the evaluation of patients with congenital facial weakness |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028830/ https://www.ncbi.nlm.nih.gov/pubmed/33827624 http://dx.doi.org/10.1186/s13023-021-01736-1 |
work_keys_str_mv | AT webbbrynd aframeworkfortheevaluationofpatientswithcongenitalfacialweakness AT manoliirini aframeworkfortheevaluationofpatientswithcongenitalfacialweakness AT engleelizabethc aframeworkfortheevaluationofpatientswithcongenitalfacialweakness AT jabsethylinw aframeworkfortheevaluationofpatientswithcongenitalfacialweakness AT webbbrynd frameworkfortheevaluationofpatientswithcongenitalfacialweakness AT manoliirini frameworkfortheevaluationofpatientswithcongenitalfacialweakness AT engleelizabethc frameworkfortheevaluationofpatientswithcongenitalfacialweakness AT jabsethylinw frameworkfortheevaluationofpatientswithcongenitalfacialweakness |