VACTERL Association and Unilateral Lambdoid Craniosynostosis

Abstract

We present the case of a 2-year-old Thai boy with VACTERL association who was also diagnosed with left unilateral lambdoid craniosynostosis, a rare and atypical finding in this syndrome. The patient exhibited multiple congenital anomalies, including butterfly vertebrae, imperforate anus, and a patent ductus arteriosus. At 12 months of age, he was referred to the Craniofacial team due to posterior plagiocephaly and facial asymmetry. Imaging confirmed left lambdoid synostosis with effacement of the subarachnoid space, prompting surgical intervention. At 15 months, he underwent posterior cranial vault remodeling, which successfully improved cranial morphology and intracranial volume. Postoperatively, the patient demonstrated age-appropriate developmental milestones and significant improvement in head shape, though mild facial asymmetry persisted. This case highlights the rare coexistence of lambdoid craniosynostosis with VACTERL association, emphasizing the importance of early diagnosis, timely surgical intervention, and a multidisciplinary approach in managing complex congenital anomalies. While craniosynostosis is not classically associated with VACTERL, this report suggests a potential overlap that warrants further genetic and molecular investigation. Early recognition and treatment of craniofacial abnormalities in patients with VACTERL is crucial in optimizing functional and aesthetic outcomes.

Keywords: VACTERL; craniofacial abnormalities; craniosynostosis; lambdoid suture.