VACTERL Association and Unilateral Lambdoid Craniosynostosis

Area of Science:

• Pediatric Surgery
• Genetics
• Craniofacial Anomalies

Background:

• VACTERL association is a complex syndrome with multiple congenital anomalies.
• Craniosynostosis, the premature fusion of skull sutures, is not typically associated with VACTERL association.
• This case presents a rare overlap of these conditions.

Purpose of the Study:

• To report a unique case of lambdoid craniosynostosis in a patient with VACTERL association.
• To emphasize the importance of early diagnosis and surgical intervention for craniofacial abnormalities in this population.
• To suggest potential genetic links warranting further investigation.

Main Methods:

• Case report of a 2-year-old Thai boy diagnosed with VACTERL association.
• Clinical evaluation for posterior plagiocephaly and facial asymmetry at 12 months.
• Diagnostic imaging (CT/MRI) to confirm left unilateral lambdoid synostosis.
• Surgical intervention: posterior cranial vault remodeling at 15 months.

Main Results:

• Successful surgical correction of left lambdoid synostosis.
• Significant improvement in cranial morphology and intracranial volume post-surgery.
• Patient achieved age-appropriate developmental milestones with residual mild facial asymmetry.

Conclusions:

• Lambdoid craniosynostosis can occur in VACTERL association, though rare.
• Early diagnosis and multidisciplinary management are crucial for optimal outcomes.
• This association warrants further genetic and molecular research.