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Article

Further delineation of the Van den Ende-Gupta syndrome.

American journal of medical genetics. Part A - 1 Dec 2010

Ali Rehab, Almureikhi Mariam, Al-Musaifri Fatima, Bhat Venkatraman, Teebi Ahmad, Ben-Omran Tawfeg

Abstract excerpt

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...

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PMID: 21108395
DOI: 10.1002/ajmg.a.33725

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