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DOI: 10.1007/s40556-021-00296-5
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.
Publication History
Received: 01 January 2021
Accepted: 07 March 2021
Article published online:
05 May 2023
© 2021. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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