EC Paediatrics

Background and Aims: VACTERL association is a rare condition. Its prevalence reported 1 in 20,000 births. According to Solomon., et al. the mostly used classification and accepted by researchers and clinicians. It’s characterised by the presence of one the following criteria: (i) 3 or more major component features of VACTERL association or (ii) 2 major component features together with an affected 1st degree relative or (iii) 2 major component features together with another anomaly. No evidence of genetic or phenotypic predistortion has been reported.

Methods: This case series reports retrospectively; clinical presentations, management and outcomes of five patients diagnosed with VACTERL association in tertiary referral centre serving country with small population. We discussed related anomalies, health burdens and reviewed recent updated research studies.

Results: Five patients presented in the case series are boys. Three presented with triad of VACTERL component features, one had a tetrad, and one had a pentad. The most common VACTERL component in the reported cases, was cardiac, renal and vertebral anomalies since 4 of the 5 patients had one of these anomalies, whilst the least prevalent was limb anomalies since only one of the patients exhibited this. Imperforate anus was the most common form of anal anomaly, seen in two patients. None noted antenatally and all five have been screened for all features postnatally.

Conclusion: With high index of suspicion, we would recommend screening for all different component features of VACTERL association once there is clinical evidence of congenital anomaly to avoid potential morbidity and mortality.

 Keywords: VACTERL Association; Vertebral Defects (VD); Anal Atresia (AA); Tracheoesophageal Fistula (TEF)

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