Genetics of acheiropodia ("The handless and footless families of Brazil"): X. Roentgenologic study.
The main radiologic findings from four unrelated cases and two sibs with acheiropodia are presented and discussed. On the basis of such analysis, a clinical and radiologic description of the anomaly is given. The presence of one or more fingers and of a small bone (Bohomoletz bone) in the upper stumps is discussed. These unusual findings in bone structure were assumed to be due to a variability in the expression of the acheiropodia gene. Radiologic studies of some of the acheiropods' normal parents failed to reveal even mild manifestations of the gene in the heterozygous state. No recognizable pattern was found in the dermal ridges on the end of the acheiropods' upper or lower stumps.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D001938:Brazil; D003878:Dermatoglyphics; D005260:Female; D005360:Fibula / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000002:abnormalities / Q000000981:diagnostic imaging; D007866:Leg / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D011859:Radiography; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging