Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child.
We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome. This observation suggests that the Rapp-Hodgkin type of ectodermal dysplasia and EEC syndrome, both defined as autosomal dominant conditions with variable expression, may be manifestations of the same mutated gene. We also want to emphasize that urogenital anomaly is another hallmark of the EEC syndrome.
Moerman
P
P
Department of Pathology, Katholieke Universiteit Leuven, Belgium.
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000022:Abortion, Spontaneous; D000328:Adult; D000649:Amniocentesis; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics*; D005124:Eye Abnormalities; D005260:Female; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities / Q000473:pathology; D008297:Male; D011247:Pregnancy