A framework for the evaluation of patients with congenital facial weakness

A framework for the evaluation of patients with congenital facial weakness

Blog Article

Abstract There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation.Here princess polly dresses long sleeve 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, att nighthawk hotspot 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.