[Echodactyly syndrome, ectodermic dysplasia, facial cleft, and EEC syndrome : report on 12 cases (author's transl)].
Twelve cases of a rare syndrome are reported. Findings included a facial cleft, adactyly of the 2nd and 3rd fingers and 2nd and 3rd toes, and ectodermic dysplasia involving anodontia, hypotrichosis, and albinoid type pigmentation of the skin and the exoskeleton, with clear eyes and chronic conjunctivitis. An interesting finding was that the anodontia affected the permanent teeth only, initially involving the incisors and the second premolars (nine cases out of twelve). Inversely, the deciduous teeth were unaffected, except for the upper first molars in two cases. The canines, usually constantly present, were absent in two out of three cases.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000848:Anodontia / Q000000981:diagnostic imaging / Q000209:etiology; D002648:Child; D002972:Cleft Palate; D004476:Ectodermal Dysplasia / Q000175:diagnosis; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
Douze observations du syndrome ectrodactylie. Dysplasie ectodermique. Fente faciale, syndrome E.E.C.