Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects.
We report another case of acheiropodia, a rare autosomal recessive trait of distal limb deficiency, to date seen only in Brazil in persons of Portuguese ancestry. The patient's parent were first cousins; she had two younger affected sisters. She presented with signs of vascular insufficiency of the lower stumps, which after amputation were found to lack large vessels below the knee.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001938:Brazil; D003241:Consanguinity; D005260:Female; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital; D006801:Humans; D007866:Leg / Q000098:blood supply; D010375:Pedigree; D010641:Phenotype; D011174:Portugal / Q000208:ethnology