Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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MeSH Review:

Ellis-Van Creveld Syndrome

Mostafa, M.I. et al., Erzen, M. et al., Waldrigues, A. et al., George, E. et al., Taylor, G.A. et al., et al.

Dugoff, Thieme, Hobbins,

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Disease relevance of Ellis-Van Creveld Syndrome

Ellis-van Creveld (EVC) syndrome (chondroectodermal dysplasia, mesoectodermal dysplasia, OMIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth [1].

High impact information on Ellis-Van Creveld Syndrome

Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome [2].
Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating [3].
These data suggest that there is a relationship between chondroectodermal dysplasia and SPR type I, and that SRP type III is distinct from SRP type I [4].
Ectodermal dysplasia polydactyly, chondroectodermal dysplasia and possibly congenital heart diseases were present in all our cases [5].

Biological context of Ellis-Van Creveld Syndrome

First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound [6].

Anatomical context of Ellis-Van Creveld Syndrome

Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome) [7].

References

Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome. Mostafa, M.I., Temtamy, S.A., el-Gammal, M.A., Mazen, I.M. Genetic counseling (Geneva, Switzerland) (2005) [Pubmed]
Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome. Taylor, G.A., Jordan, C.E., Dorst, S.K., Dorst, J.P. Radiology. (1984) [Pubmed]
Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating. George, E., DeSilva, S., Lieber, E., Raziuddin, K., Gudavalli, M. Journal of perinatal medicine. (2000) [Pubmed]
Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia. Erzen, M., Stanescu, R., Stanescu, V., Maroteaux, P. Ann. Genet. (1988) [Pubmed]
Ellis-van Creveld syndrome. An inbred kindred with five cases. Waldrigues, A., Grohmann, L.C., Takahashi, T., Reis, H.M. Revista brasileira de pesquisas médicas e biológicas. (1977) [Pubmed]
First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound. Dugoff, L., Thieme, G., Hobbins, J.C. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (2001) [Pubmed]
Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). Qureshi, F., Jacques, S.M., Evans, M.I., Johnson, M.P., Isada, N.B., Yang, S.S. Am. J. Med. Genet. (1993) [Pubmed]

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