Further delineation of the Van den Ende-Gupta syndrome.
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.
Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
Rehab
R
Ali
Mariam
M
Almureikhi
Fatima
F
Al-Musaifri
Venkatraman
V
Bhat
Ahmad
A
Teebi
Tawfeg
T
Ben-Omran
D000015:Abnormalities, Multiple / Q000235:genetics; D054119:Arachnodactyly / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D055028:Comparative Genomic Hybridization; D003241:Consanguinity; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005190:Family; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008046:Lip / Q000002:abnormalities*; D008297:Male; D046228:Microarray Analysis; D010641:Phenotype; D011780:Qatar; D011859:Radiography; D013577:Syndrome
D004247:DNA