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Related to blepharophimosis: telecanthus
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He diagnosed two sisters and a cousin with learning disabilities associated with congenital heart disease, blepharophimosis (small eye openings), blepharoptosis (drooping eyelids) and small teeth.
3,4) the children had short stature, myotonia with paucity of facial expression, blepharophimosis, pectus carinatum, and contractures.
It may be associated with third nerve misdirection, Marcus-Gunn jaw-winking phenomenon or blepharophimosis syndrome.
INTRODUCTION: Waardenburg syndrome is a bunch of hereditary conditions characterized by lateral displacement of the medial canthi combined with dystopia of lacrimal puncta and blepharophimosis, prominent broad nasal root, hypertrichosies of medial part of the eyebrows, white forelock, heterochromia iridis and deaf mutism.