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Austin J Clin Ophthalmol. 2015;2(2): 1045.
Novel Association of Blepharophimosis with Xanthoma Tuberosum
Panda Bijnya* and Pujahari Susanta
Department of Ophthalmology, All India Institute Of Medical Sciences, India
*Corresponding author: Panda Bijnya, Department of Ophthalmology, All India Institute Of Medical Sciences, Bhubaneswar, Orissa, India
Received: April 08, 2015; Accepted: April 10, 2015; Published: April 13, 2015
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Six year old male presenting with multiple eruptions over flexure aspect of knees, ankle, buttock, and palms incidentally found to have Blepharophimosis, ptosis, epicanthus inversus syndrome. These co-existing autosomal dominant mutations for BPES and Familial hypercholesterolemia in a single patient has never been reported in literature till date.