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

Dandy-Walker malformation in Ellis-van Creveld syndrome.

We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance of both in our 2 patients plus the patient in the literature suggests that Dandy-Walker malformation may be a manifestation in the EvC syndrome. However, in this isolate the coincidental occurrence of 2 rare recessive traits cannot be excluded.[1]

References

  1. Dandy-Walker malformation in Ellis-van Creveld syndrome. Zangwill, K.M., Boal, D.K., Ladda, R.L. Am. J. Med. Genet. (1988) [Pubmed]
 
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