EEC syndrome without ectrodactyly? Report of 8 cases.
Eight cases are presented from two families with a variable manifestation of the EEC syndrome. In the first family only one of three affected persons suffers from limb defects. In the second family all five affected have a different pattern of symptoms and only two of them show limb defects. The described families as well as at least one literature report confirm that ectrodactyly is not an obligate symptom of the EEC syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004475:Ectoderm; D004476:Ectodermal Dysplasia / Q000235:genetics; D005385:Fingers / Q000002:abnormalities*; D005786:Gene Expression Regulation; D006801:Humans; D010375:Pedigree; D013577:Syndrome