MATERNAL SYSTEMIC LUPUS-ERYTHEMATOSUS AND CHONDRODYSPLASIA PUNCTATA IN 2 SIBS - PHENOCOPY OR COINCIDENCE

Authors
ELCIOGLU N HALL CM
Citation
N. Elcioglu et Cm. Hall, MATERNAL SYSTEMIC LUPUS-ERYTHEMATOSUS AND CHONDRODYSPLASIA PUNCTATA IN 2 SIBS - PHENOCOPY OR COINCIDENCE, Journal of Medical Genetics, 35(8), 1998, pp. 690-694
Citations number
17
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
35
Issue
8
Year of publication
1998
Pages
690 - 694
Database
ISI
SICI code
0022-2593(1998)35:8<690:MSLACP>2.0.ZU;2-Q
Abstract
Two sibs with chondrodysplasia punctata in whom the mother was sufferi ng from systemic lupus erythematosus are presented and the radiologica l features described. Comparison with other forms of chondrodysplasia punctata with a review of the relevant publications is presented and t he possible asscociation with maternal systemic lupus erythematosus is highlighted.