Germinal mosaicism in Crouzon syndrome.
Two brothers with Crouzon craniofacial dysostosis syndrome born to normal unrelated parents are described. Paternity studies show the probability of paternity is 99.6%. This report appears to represent the first example of germinal mosaicism in Crouzon syndrome.
Rollnick
B R
BR
University of Illinois College of Medicine at Chicago, Department of Pediatrics.
D000293:Adolescent; D000328:Adult; D002648:Child; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010334:Paternity