Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports.

objectiveTo review the published literature on prenatal findings of COL2A1-related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center.

methodA narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings, gestational age at detection, and molecular diagnoses in cases of COL2A1-related SEDC. Clinical and molecular description of two additional fetal cases with postnatal molecular confirmation were also included.

resultsGestational age at initial detection ranged from 11 to 28 weeks. Five reported cases occurred in a familial setting, while two were initially considered sporadic. In several cases, complementary imaging modalities were required to better characterize vertebral and ossification defects. A clear genotype-phenotype correlation could not be reliably established; no specific molecular pattern reliably predicted the severity of prenatal imaging findings or perinatal outcomes.

conclusionOur findings highlight the nonspecific nature of prenatal manifestations in COL2A1-related SEDC, which despite being largely consistent across cases do not allow for a specific diagnosis without molecular confirmation or a known family history. These challenges underscore the need for a comprehensive diagnostic strategy that integrates detailed imaging, molecular genetic testing, and close collaboration within a multidisciplinary team.