Faculty Collaboration Database

Chondrodysplasia punctata in siblings and maternal lupus erythematosus. Clin Genet 2004 Dec;66(6):545-9

Date

11/04/2004

Pubmed ID

15521983

DOI

10.1111/j.1399-0004.2004.00364.x

Scopus ID

2-s2.0-9444264255 (requires institutional sign-in at Scopus site)   32 Citations

Abstract

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.

Author List

Kozlowski K, Basel D, Beighton P

Author

Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Child
Chondrodysplasia Punctata
Chronic Disease
Epilepsy
Female
Humans
Lupus Erythematosus, Systemic
Male
Pregnancy
Pregnancy Complications
Radiography
Siblings