TY - JOUR T1 - Congenital cytomegalovirus infection is associated with congenital rickets: a retrospective autopsy cohort study JF - Archives of Disease in Childhood - Fetal and Neonatal Edition JO - Arch Dis Child Fetal Neonatal Ed DO - 10.1136/archdischild-2022-324760 SP - fetalneonatal-2022-324760 AU - Elaine S Chan AU - Seemab Haider AU - Surabhi Subramanian AU - Weiming Yu AU - Erik W Nohr AU - Lawrence de Koning Y1 - 2022/11/15 UR - http://fn.bmj.com/content/early/2022/12/26/archdischild-2022-324760.abstract N2 - Congenital rickets is characterised by deficient bone mineralisation at the growth plate in utero. A review of published cases of congenital rickets found that maternal vitamin D deficiency likely contributes to its pathogenesis.1 Two recent studies showed that human cytomegalovirus (CMV) led to a rapid, pronounced and persistent reduction of vitamin D receptor (VDR) mRNA expression in vitro and in vivo.2 3 This effect was specific to CMV and was not observed for other common viruses.2 VDR is essential for mediating the biological function of vitamin D and for bone development.4 Therefore, we hypothesised that congenital rickets could be observed in fetuses and neonates with congenital CMV (cCMV) infection.We searched our electronic autopsy database and retrospectively identified fetal and neonatal autopsies with a diagnosis of cCMV, performed at Alberta Children’s Hospital from 1 January 2006 to 31 October 2021. All autopsies were performed by perinatal pathologists with informed parental consent. We followed the Centers for Disease Control and Prevention diagnostic guidelines … ER -