Unusual short rib-polydactyly syndrome

Am J Med Genet. 1992 Sep 1;44(1):31-6. doi: 10.1002/ajmg.1320440108.

Abstract

We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Fetus / diagnostic imaging
  • Genes, Lethal
  • Humans
  • Infant, Newborn
  • Male
  • Radiography
  • Short Rib-Polydactyly Syndrome / genetics*