Inverse Marcus Gunn phenomenon is a rare form of congenital facial synkinesis in which jaw movement temporarily elicits ptosis, either unilateral or bilateral. This phenomenon is presumed to result from dysinnervation of facial muscles during development of the nervous system. We describe 2 brothers, both with inverse Marcus Gunn phenomenon in the context of multiple other congenital anomalies, all presumed secondary to a chromosomal abnormality involving 12q duplication and 1p36 deletion. Although a handful of familial cases of congenital facial synkinesis have been previously described, this is the first in which a genetic abnormality has been identified. Of the 4 genetic abnormalities previously described in association with congenital facial synkinesis (based on isolated case reports), 1 also involved duplication at the long arm of chromosome 12. We conclude that duplication of ≥1 of the roughly 44 protein-coding genes in the ∼6.3-Mb overlap region between the previously published case and our 2 patients is a likely genetic cause of congenital facial synkinesis.
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December 2016
Case Report|
December 01 2016
Familial Congenital Facial Synkinesis Due to 12q Duplication: A Case Report and Literature Review
Kenneth Alexis Myers, MD;
aDepartment of Neurology, Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne, Australia; and
bDepartments of Pediatrics, Section of Neurology, and
Address correspondence to Kenneth Alexis Myers, MD, PhD, Austin Health, 245 Burgundy St, Heidelberg, VIC, Australia 3084. E-mail: sfu.ken1@gmail.com
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Allan Micheil Innes, MD;
Allan Micheil Innes, MD
cMedical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
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Jean Kit-Wah Mah, MD
Jean Kit-Wah Mah, MD
bDepartments of Pediatrics, Section of Neurology, and
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Address correspondence to Kenneth Alexis Myers, MD, PhD, Austin Health, 245 Burgundy St, Heidelberg, VIC, Australia 3084. E-mail: sfu.ken1@gmail.com
POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
Pediatrics (2016) 138 (6): e20161724.
Article history
Accepted:
July 26 2016
Citation
Kenneth Alexis Myers, Allan Micheil Innes, Jean Kit-Wah Mah; Familial Congenital Facial Synkinesis Due to 12q Duplication: A Case Report and Literature Review. Pediatrics December 2016; 138 (6): e20161724. 10.1542/peds.2016-1724
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