2. Academic Validation
  3. Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects

Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects

  • Am J Med Genet. 1979;4(3):287-91. doi: 10.1002/ajmg.1320040312.
F A Marçallo,  R F Pilotto,  A Freire-Maia
PMID: 517582 DOI: 10.1002/ajmg.1320040312
Abstract

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.

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