AEC syndrome: ankyloblepharon, ectodermal defects, and cleft lip and palate. Report of two cases.
An unusual syndrome of ectodermal dysplasia was seen in a young woman and her son. The constellation of findings included hair, nail, and teeth dystrophies, as well as hypohidrosis. The patients appear to exhibit the previously described syndrome of ankyloblepharon, ectodermal defects, and clefting of the lip and palate. Their cases are the eighth and ninth cases reported in the literature.
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000150:complications* / Q000235:genetics; D002972:Cleft Palate / Q000150:complications* / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics; D005141:Eyelid Diseases / Q000150:complications* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome