Jaw-winking ptosis in a patient with Kabuki syndrome.
We present a case of a child with Kabuki syndrome and jaw-winking ptosis. Kabuki syndrome is rare and consists of a constellation of findings including mental retardation, characteristic oculofacial features, and skeletal abnormalities. The association of Kabuki syndrome and jaw-winking ptosis has not been previously reported.
Emmert-Buck
Leslie T
LT
Department of Ophthalmology, University of Maryland, Baltimore, Maryland 21201, USA.
Preslan
Mark W
MW
Kathuria
Sajeev S
SS
D000015:Abnormalities, Multiple; D001763:Blepharoptosis / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D001767:Blinking; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008334:Mandible / Q000002:abnormalities* / Q000294:innervation; D009801:Oculomotor Muscles / Q000294:innervation*; D013577:Syndrome