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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Three new patients with congenital unilateral facial nerve palsy due to chromosome 22q11 deletion.

We report three unrelated patients with congenital facial nerve palsy and chromosome 22q11 deletion, a condition hitherto poorly recognized. In the first case, facial palsy was associated with aortic coarctation, ductus arteriosus, and ostium secundum atrial septal defect. In the second case, facial palsy was associated with ostium secundum atrial septal defect, obstruction of the ureteropelvic junction, double ureteropelvic-calicial system, and distal metaphyseal widening of the forearm and leg bones. In both cases, facial palsy was the presenting feature. In the third case, an ostium secundum atrial septal defect was also present, but involvement of cranial nerves III, VI, and VIII, in addition to hypoplastic structures of cerebellar and cerebral peduncles, were the predominant features. There were no inherited deletions within chromosome band 22q11 and the de novo deletions detected in each case belonged to the paternally derived chromosome 22. 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. We recommend investigation for chromosome 22q11 deletions in patients with complete nerve facial palsy.[1]


  1. Three new patients with congenital unilateral facial nerve palsy due to chromosome 22q11 deletion. Puñal, J.E., Siebert, M.F., Angueira, F.B., Lorenzo, A.V., Castro-Gago, M. J. Child Neurol. (2001) [Pubmed]
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