Chondrodysplasia punctata in siblings and maternal lupus erythematosus


Prof P Beighton, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Observatory 7925, Cape Town, South Africa.
Tel: +27 21 406 6530;
fax: +27 21 447 7703;


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 brothers, seven previous instances of the association of CDP and maternal lupus erythematosus (MLE) have been reported. On this basis, MLE must be regarded as yet another causative factor in CDP.