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Jaw-winking ptosis in a patient with Kabuki syndrome
Leslie T Emmert-Buck1, Mark W Preslan, Sajeev S Kathuria
1Department of Ophthalmology, University of Maryland, Baltimore, Maryland 21201, USA.
Abstract:
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.
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