title: Two cases of Ellis-van Creveld syndrome in a small island population.
abstract: Two individuals showing features typical of the autosomal recessive Ellis-van Creveld syndrome have been diagnosed in a population of 1340 individuals living on a small island off the west coast of Scotland. Clinical features and family relationships of the affected individuals are described.
mesh_terms: D000328:Adult; D004613:Ellis-Van Creveld Syndrome / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D006363:Hebrides; D006801:Humans; D008297:Male; D008875:Middle Aged