Sensebrenner syndrome: case reports and literature review

Introduction: Three patients with Sensenbrenner syndrome in follow up with Pediatric Neurosurgery postoperative of sagittal suture synostosis. These patients are followed by multidisciplinary health professionals for their underlying pathologies, including bilateral nephropathy, hepatopathy, endocrinopathy and neurodevelopmental delay.

Discussion: Sensenbrenner syndrome, known as cranioectodermal dysplasia, is a rare autosomal recessive disorder. It is characterized with distinct craniofacial features, including sagittal craniosynostosis, skeletal and ectodermal abnormalities. Some cases have nephronophthisis, hepatic fibrosis, brain anomalies and retinitis pigmentosa. Over 75% of cases present facial features, brachydactyly, narrow thorax, dolichocephaly, shortening of proximal bones. Between 25% and 50% of cases present liver disease, syndactyly, developmental delay, heart defect, and other anomalies. Although most children develop normally, milestones may be delayed in some cases. Cognitive and social abilities are usually normal. The surgical criteria for craniosynostosis are the same as for nonsyndromic cases. Patients with cranioectodermal dysplasia require a multidisciplinary teamwork to investigate, treat and closely follow these patients.

Conclusion: Sensenbrenner syndrome is a rare multiorgan disorder. Sagittal synostosis is a frequent finding in over 50% of cases. These patients require a close follow up and clinical attention because severe complications related to renal and liver disorders.