Symptomatic heterozygosity in the Ellis-van Creveld syndrome?
A 13-month-old girl with Ellis-van Creveld syndrome and her mildly affected father are described. We discuss whether the father is a symptomatic heterozygote of the Ellis-van Creveld syndrome or an untypical affected patient with Weyers' acrodental dysostosis.
Spranger
S
S
Institute of Human Genetics and Anthropology, University of Heidelberg, Germany.
Tariverdian
G
G
D000328:Adult; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics* / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree