Co-occurrence of Congenital Osteogenesis Imperfecta and Maternal Antiphospholipid Syndrome: A Novel Case Report

Abstract

Osteogenesis imperfecta (OI), the second leading cause of congenital osteopenia, is a hereditary connective tissue disorder with a rare occurrence. It results from de novo or inherited mutations, justifying the search for a family history, particularly cases of consanguinity or similar conditions. However, its association with maternal pathologies, especially those of autoimmune origin, remains unexplored in the literature, based on our research. Antiphospholipid syndrome (APS) primarily leads to major obstetric complications: miscarriages, thromboses, and fetal growth restrictions. But is there an established link between maternal APS and fetal OI? We present here a case of a newborn with OI, whose mother's pregnancy was complicated by maternal APS, illustrating a potential association that warrants further investigation.