Natural history of rhizomelic chondrodysplasia punctata.

  title={Natural history of rhizomelic chondrodysplasia punctata.},
  author={Amy L White and Peggy Modaff and Francesca Holland-Morris and Richard M Pauli},
  journal={American journal of medical genetics. Part A},
  volume={118A 4},
Rhizomelic chondrodysplasia punctata (RCP) is a rare autosomal recessive disorder with many associated medical complications. Prior to this study, natural history information about RCP was limited and based on experiences with small populations of affected individuals. We delineate the natural history of RCP through systematic analysis of 35 previously unreported individuals (as well as review of 62 literature cases with respect to survival and cause of death). Survival, growth, and… CONTINUE READING
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