Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/16518
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dc.contributor.authorMyers, Kenneth Alexisen_US
dc.contributor.authorInnes, Allan Micheilen_US
dc.contributor.authorMah, Jean Kit-Wahen_US
dc.date2016-11-17en_US
dc.date.accessioned2017-01-16T02:54:19Z-
dc.date.available2017-01-16T02:54:19Z-
dc.date.issued2016-12en_US
dc.identifier.citationPediatrics 2016; 138(6): e20161724en_US
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/16518-
dc.description.abstractInverse 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.en_US
dc.language.isoenen_US
dc.titleFamilial congenital facial synkinesis due to 12q duplication: a case report and literature reviewen_US
dc.typeJournal Articleen_US
dc.identifier.affiliationDepartment of Neurology, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australiaen_US
dc.identifier.affiliationDepartments of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canadaen_US
dc.identifier.affiliationSection of Neurology, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canadaen_US
dc.identifier.affiliationMedical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canadaen_US
dc.identifier.pubmedurihttps://pubmed.ncbi.nlm.nih.gov/27940697en_US
dc.identifier.doi10.1542/peds.2016-1724en_US
dc.type.contentTexten_US
dc.type.austinJournal Articleen_US
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeJournal Article-
item.grantfulltextnone-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
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