EEC syndrome sine sine? Report of a family with oligosymptomatic EEC syndrome.
We report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed. The penetrance of this dominantly inherited disorder is judged to be reduced to about 78%.
Majewski
F
F
Institute of Human Genetics, University of Düsseldorf, Federal Republic of Germany.
Küster
W
W
D000328:Adult; D002648:Child; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities