Abstract
Spondylocostal dysostosis type 1 is caused by mutations in the DLL3 gene, which encodes a Notch1 ligand. These mutations lead to defective somitogenesis, resulting in a consistent pattern of abnormal vertebral segmentation. Disruptions in the Notch1 signaling pathways can potentially lead to extraskeletal anomalies, although specific associations with DLL3 mutations are less well-documented. We report a 23-week female fetus presenting with characteristic “pebble beach” sign and rib anomalies. Autopsy revealed pulmonary hypoplasia and a 4 mm fundic nodule bulging on both inner and outer gastric surfaces. Histological examination of the stomach walls revealed multifocal pancreatic heterotopia in the fundus and pylorus, invading the submucosa and/or the muscularis propria. Genetic analysis confirmed a novel homozygous likely pathogenic frameshift variant in DLL3 (NM_000435.3:c.183_184del, p.Arg61Serfs*39). This case report expands the DLL3 mutational spectrum in spondylocostal dysostosis type 1 and highlights associated pancreatic heterotopia.
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