Rare Association of Fetal Chondrodysplasia Punctata in Maternal SLE: A Case Report

Abstract

Chondrodysplasia punctata (CDP) is a rare congenital skeletal dysplasia characterised by punctate bony calcification associated with a diverse spectrum of etiologies, genetic syndromes and prenatal exposures resulting in varied outcomes. The association with maternal autoimmune disease are less reported in prenatal literature. We present a case of fetal CDP detected on prenatal ultrasound in a mother with maternal systemic lupus erythematosus (SLE). Karyotype, postnatal X-ray and genetic mutation analysis were done to confirm the etiology. The purpose of this study was to increase the clinician's awareness of the association of CDP with maternal SLE in cases with negative reports for genetic mutation analysis, chromosomal abnormality and in the absence of any history of teratogenic drug intake or maternal infection.