Work

Unrecognized constellation of multiple congenital anomalies in a newborn: a rare case report

Year: 2025

Type: article

Abstract: Introduction and importance: Multiple congenital anomalies occur when more than two unrelated structural anomalies are present in one case and cannot be related to a specific syndrome. Genetic, nutritional, and environmental factors play major roles in the development of such cases. Up to our knowledge and research, there are no similar cases in the literature such as this case that combine these four anomalies. Case presentation: A female neonate of preterm gestational age 34 + 1 who had cleft lip and palate was born and needed an immediate neonatal intensive care unit interface. The patient experienced several complications, including acute respiratory distress, hypocalcemia, sepsis, thrombocytopenia, and congenital hypothyroidism. The images also revealed transverse colon atresia and an esophageal duplication cyst. Clinical discussion: Management consisted of surgeries for the atresia and for the esophageal duplication cyst, thyroid replacement with hormones, and support requirements including respiratory care in many forms. Conclusion: This case highlights the necessity of a comprehensive and coordinated care plan for patients with congenital anomalies. When a newborn presents with a single defect, it is crucial for the physicians to investigate the genetic, environmental, and embryological factors that may correlate with additional anomalies. Effective management in such cases requires the seamless collaboration of multiple specialists and vigilant monitoring of multiple organ systems to ensure optimal patient outcomes.

Source: Annals of Medicine and Surgery

DOI: 10.1097/ms9.0000000000003150