Background: gastric pneumatosis is a rare sign with a primarily radiological diagnosis. In newborn infants, this finding should raise the suspicion of necrotizing enterocolitis, which represents a serious clinical condition with high morbidity and mortality. However, other causes of gastric pneumatosis are reported in literature, including intramural displacement of a feeding tube. In this report we present a case of gastric pneumatosis in a preterm boy admitted to our NICU. Case presentation: the baby appeared pale and poor responsive during the first days of life on positive pressure ventilation and gavage feeding. A distended upper abdomen with bloody and biliary gastric aspirates was noted; no bloody stools were reported. Blood cultures, cerebrospinal fluid culture and blood cell count were normal; acute phase proteins were negative on serial determinations. Abdominal X-Ray showed gastric pneumatosis with displacement of the feeding tube and no other pathological findings in the rest of the bowel. After few days of conservative management, the baby improved dramatically. Conclusions: we suggest that the cause of this clinical picture could have been a mechanical lesion in gastric mucosa caused by the feeding tube; positive pressure ventilation then could have raised intragastric pressure, leading air to diffuse between the layers of the gastric wall.

Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi‐allelic variants in one of the genes involved in the Notch signaling pathway that tunes the “segmentation clock” of somitogenesis: DLL3, HES7, LFNG, MESP2, RIPPLY2, and TBX6. To date, seven individuals with LFNG variants have been reported in the literature. In this study we describe two newborns and one fetus with SCD, who were found by trio‐based exome sequencing (trio‐ES) to carry homozygous (c.822‐5C>T) or compound heterozygous (c.[863dup];[1063G>A]) and (c.[521G>T];[890T>G]) variants in LFNG. Notably, the c.822‐5C>T change, affecting the polypyrimidine tract of intron 5, is the first non‐coding variant reported in LFNG. This study further refines the clinical and molecular features of spondylocostal dysostosis 3 and adds to the numerous investigations supporting the usefulness of trio‐ES approach in prenatal and neonatal settings.