A familial case of VACTERL association with co-occurring sacrococcygeal teratoma: a case report

Abstract Background: VACTERL association is a rare disorder characterized by a non-random co-occurrence of multiple congenital anomalies. Reported incidences of VACTERL are usually sporadic. Case Presentation: Here we present a case of familial VACTERL association in a male infant born full term at 38 weeks of gestation. The infant’s maternal aunt also had significant features of VACTERL association but died in the first year of life. Due to the lack of specialized expertise and absence of detailed anomaly scans, the congenital anomalies were not detected prenatally. The baby also had a very rare co-occurrence of sacrococcygeal teratoma. Conclusion: Skillful personnel and equipment to detect the anomalies in-utero and the use of modern DNA sequencing techniques to detect the possible underlying genetic defects can help us better understand the pathophysiology of various congenital disorders. Early diagnosis is crucial for optimizing management strategies and counselling parents regarding potential outcomes.