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

## TL;DR

This paper reports a rare case of familial VACTERL association in an infant with a co-occurring sacrococcygeal teratoma.

## Contribution

The novelty lies in documenting a familial occurrence of VACTERL association with a rare additional tumor.

## Key findings

- The infant had VACTERL association and a rare sacrococcygeal teratoma.
- The maternal aunt also had VACTERL features but died in infancy.
- Early prenatal detection and DNA sequencing could improve understanding and management of such disorders.

## 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.