A framework for the evaluation of patients with congenital facial weakness.
Orphanet J Rare Dis
; 16(1): 158, 2021 04 07.
Article
en En
| MEDLINE
| ID: mdl-33827624
ABSTRACT
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.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Parálisis Facial
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Idioma:
En
Revista:
Orphanet J Rare Dis
Asunto de la revista:
MEDICINA
Año:
2021
Tipo del documento:
Article