مؤسسة الشرق الأوسط للنشر العلمي
عادةً ما يتم الرد في غضون خمس دقائق
Background Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by distinct facial features, limb malformations, and growth abnormalities, often diagnosed postnatally. Prenatal detection remains challenging due to its variable presentation and the reliance on high-resolution imaging and genetic analysis. This report aims to highlight the importance of integrating detailed prenatal ultrasound findings with molecular diagnostics for early identification of CdLS. Case Report We present three cases of CdLS diagnosed through prenatal ultrasound and confirmed by genetic analysis identifying de novo mutations in the NIPBL gene. Key ultrasound findings included limb reduction defects, facial dysmorphisms such as synophrys and micrognathia, and intrauterine growth restriction. Two pregnancies were terminated due to poor prognosis, while the third resulted in a live birth with severe anomalies. Postnatal and autopsy findings corroborated the prenatal diagnoses and provided additional insights into the genotype-phenotype correlation, highlighting the variability of clinical presentations. Conclusion This study underscores the critical role of prenatal ultrasound in identifying suggestive features of CdLS and the necessity of molecular testing for definitive diagnosis. The findings expand the spectrum of prenatal manifestations associated with CdLS and advocate for refining diagnostic criteria to improve early detection and perinatal management. This approach facilitates informed decision-making and optimizes outcomes for affected families.