Athelia in a female infant - heterozygous for anhidrotic ectodermal dysplasia.
The case of a female infant with athelia is reported. Her mother, maternal aunt and grandmother show hypodontia, sparse hair and small breasts associated with mammillary hypoplasia. The clinical features and the results of MINOR's sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation.
D001940:Breast / Q000002:abnormalities*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics*; D007223:Infant; D009558:Nipples / Q000002:abnormalities*; D010375:Pedigree; D011859:Radiography; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics