Ontology highlight
ABSTRACT:
SUBMITTER: Webb BD
PROVIDER: S-EPMC8028830 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Webb Bryn D BD Manoli Irini I Engle Elizabeth C EC Jabs Ethylin W EW
Orphanet journal of rare diseases 20210407 1
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 consideration ...[more]