Dandy‐Walker malformation in Ellis‐van Creveld syndrome

Abstract

Abstract 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.