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J Pediatr Ophthalmol Strabismus ; 41(6): 369-72, 2004.
Article in English | MEDLINE | ID: mdl-15609525

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.


Subject(s)
Abnormalities, Multiple , Blepharoptosis/congenital , Intellectual Disability/genetics , Mandible/abnormalities , Oculomotor Muscles/innervation , Blepharoptosis/diagnosis , Blepharoptosis/therapy , Blinking , Child , Female , Humans , Mandible/innervation , Syndrome
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