What is the role of lab tests in the workup of congenital facial paralysis?

Updated: Jan 07, 2019
  • Author: Alan D Bruns, MD, FACS; Chief Editor: Arlen D Meyers, MD, MBA  more...
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The workup for congenital facial paralysis does not involve any particular routine battery of lab tests. If the mother has a history of viral infection perinatally, viral titers (eg, herpes simplex virus) and a TORCH screen could be considered, but the probability of one of these infections causing a facial paralysis is low. If a neonate appears syndromic, then chromosomal analysis with technology such as florescent in situ hybridization (FISH) should be considered. In these infants with complete nerve facial palsy, an investigation for chromosome 22q11 deletions is recommended. [21] Molecular testing for CHD7 mutations may help to confirm the diagnosis and differentiate it from the 22q11.2 deletion syndrome. [35] Careful audiologic evaluation with an auditory brainstem response in these patients, and those patients with FSH MD, is advised so that a sensorineural hearing loss can be ruled out. [26]

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