Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Medicine

Background:

• VACTERL association is a complex group of congenital anomalies with diverse presentations.
• While often sporadic, VACTERL association can have genetic and environmental risk factors, including maternal diabetes.
• Previous reports have linked VACTERL association with hydrocephalus (VACTERL-H) and branchial arch anomalies.

Observation:

• This study details a unique case of an infant diagnosed with VACTERL association.
• The infant presented with a branchial arch anomaly.
• Notably, the infant did not exhibit hydrocephalus, differentiating it from previously described VACTERL-H cases.

Findings:

• The case demonstrates VACTERL association in an infant of a diabetic mother.
• A concurrent branchial arch anomaly was identified.
• The absence of hydrocephalus in this VACTERL association case is a significant observation.

Implications:

• This case expands the understanding of VACTERL association's phenotypic variability.
• It underscores the importance of considering branchial arch anomalies in VACTERL cases, even without hydrocephalus.
• Further research may elucidate the specific interplay between maternal diabetes, VACTERL, and branchial arch development.