Chondrodysplasia punctata in siblings and maternal lupus erythematosus.

  title={Chondrodysplasia punctata in siblings and maternal lupus erythematosus.},
  author={Kazimierz Kozlowski and Donald Basel and Peter Beighton},
  journal={Clinical genetics},
  volume={66 6},
Chondrodysplasia punctata (CDP) was diagnosed clinically and radiographically in a male child born in Cape Town in 1991. His only sibling, a brother born in 2000 was similarly but more severely affected. The boys' mother had longstanding disseminated lupus erythematosus and epilepsy, for which she had been treated with chloraquine and other therapeutic agents during both pregnancies. The parents were non-consanguineous, and the family history was unremarkable. In addition to these affected… CONTINUE READING


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