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Further delineation of the Van den Ende–Gupta syndrome
Author(s) -
Ali Rehab,
Almureikhi Mariam,
AlMusaifri Fatima,
Bhat Venkatraman,
Teebi Ahmad,
BenOmran Tawfeg
Publication year - 2010
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.33725
Subject(s) - blepharophimosis , camptodactyly , arachnodactyly , hypoplasia , genetics , phenotype , biology , anatomy , medicine , marfan syndrome , surgery , gene , ptosis
Van Den Ende–Gupta syndrome (VDEGS) is an infrequently described disorder characterized by arachnodactyly, camptodactyly, blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge, and everted lower lip. Patients show normal growth and cognition. We report on three male and three female cases from four consanguineous families, of which three belong to the same highly inbred tribe from Qatar. The phenotype in the patients is remarkably homogeneous. VDEGS has been suggested both to follow an autosomal recessive and autosomal dominant pattern of inheritance, but our observations suggest an autosomal recessive pattern of inheritance, although genetic heterogeneity cannot be excluded. © 2010 Wiley‐Liss, Inc.