What is the role of 22q11.2 deletion syndrome (22qDS) in the etiology 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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Answer

This syndrome may include patients with velocardiofacial syndrome or DiGeorge syndrome. Association of facial nerve palsy and congenital heart disease versus cardiofacial syndrome are different only on clinical grounds, so both conditions can be genetically identical and form part of the spectrum of defects associated with chromosome 22q11 deletions. [21, 22]


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