Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases.
OBJECTIVE
To report 4 cases of Marcus Gunn jaw-winking synkinesis (MGJWS) in the absence of ptosis.


METHODS
A retrospective review of patients with MGJWS and congenital ptosis was compiled from the public and private subspecialty adult and pediatric oculoplastic practices of the 2 senior authors (AAM, TGH). Clinical data collected on patients with MGJWS included visual acuity, stereopsis, ocular motility, side of jaw-wink, presence or absence of ptosis, levator function, clinical photographs and videos, and any management undertaken.


RESULTS
A total of 848 cases of congenital ptosis were seen. Of these, there were 72 consecutive patients with MGJWS, of which 4 cases (5.6%) had no ptosis. One patient had bilateral MGJWS, with ptosis on one side only. The authors found the incidence of MGJWS in our study population to be 8.5% of all congenital ptosis cases. When the authors excluded syndromic, neurogenic, and myopathic causes of congenital ptosis, the incidence was 12.1%. In addition, the authors found a trend toward females with simple congenital ptosis and MGJWS being affected on the left side, however this was not statistically significant.


CONCLUSIONS
The authors report the first case series of MGJWS in the absence of ptosis within the second largest series ever reported. These findings may help further our understanding of the etiology behind MGJWS.
*Orbital Plastic and Lacrimal Unit, Royal Victorian Eye and Ear Hospital, †Centre for Eye Research Australia, Department of Ophthalmology, ‡Department of Surgery, Royal Melbourne Hospital, University of Melbourne, and §Department of Ophthalmology, Royal Children's Hospital, Melbourne, Australia.
Fiona C
FC
Pearce
Alan A
AA
McNab
Thomas G
TG
Hardy
D001763:Blepharoptosis / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D005133:Eye Movements / Q000502:physiology; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D007569:Jaw Abnormalities / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000503:physiopathology; D009801:Oculomotor Muscles / Q000000981:diagnostic imaging* / Q000503:physiopathology; D012021:Reflex, Abnormal; D013577:Syndrome; D014792:Visual Acuity; D055815:Young Adult; D000093922:Congenital Cranial Dysinnervation Disorders