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van den Ende–Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures
Author(s) -
Guerra Dania,
Sanchez Otto,
RichieriCosta Antonio
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30665
Subject(s) - blepharophimosis , arachnodactyly , medicine , dermatology , muscle contracture , anatomy , marfan syndrome , surgery , ptosis
Here, we report on a Venezuelan child with manifestations of van den Ende–Gupta syndrome, including blepharophimosis, arachnodactyly, and congenital contractures. We also review cases from the literature. © 2005 Wiley‐Liss, Inc.
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