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Further delineation of the Van den Ende–Gupta syndrome

2010; Wiley; Volume: 152A; Issue: 12 Linguagem: Inglês

10.1002/ajmg.a.33725

1552-4833

Rehab Ali, Mariam Almureikhi, Fatima Al‐Musaifri, Venkatraman Bhat, Ahmad S. Teebi, Tawfeg Ben‐Omran,

RNA Research and Splicing

Abstract 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.