Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient

We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical dimensions of the palpebral fissures, bilater...

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Bibliographic Details
Main Authors: Rabah M. Shawky, Radwa Gamal, Neveen S. Seifeldin
Format: Article
Language:English
Published: SpringerOpen 2015-10-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Blepharophimosis
Ptosis
Epicanthus inversus
Red hair
Lymphedema
Kidney stones
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863014001323

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http://www.sciencedirect.com/science/article/pii/S1110863014001323

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