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ERF-related craniosynostosis and surgical management in the paediatric cohort
Fardad T Afshari1, Pasquale Gallo2, Ahad Shafi2
1Department of Craniofacial Surgery, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK. afsharifardad@googlemail.com.
Insights
ERF mutation causes syndromic craniosynostosis, often affecting sagittal and lambdoid sutures. Management requires individualized surgical planning for optimal outcomes in pediatric patients.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Neurosurgery
- Craniofacial Surgery
Background:
- ERF mutations are recently identified genetic causes of syndromic craniosynostosis.
- Limited data exists on the specific patterns, surgical management, and outcomes of ERF-related craniosynostosis.
- This study details a single-center experience with a pediatric cohort.
Purpose of the Study:
- To describe the pattern of craniosynostosis in ERF mutation patients.
- To outline the surgical management strategies employed.
- To report on the outcomes of these interventions.
Main Methods:
- Retrospective review of pediatric craniofacial cases from 2014-2022.
- Identification of patients with genetically confirmed ERF-related craniosynostosis.
- Analysis of clinical parameters including craniosynostosis pattern, tonsillar herniation, and surgical outcomes.
Main Results:
- Ten patients with ERF-related craniosynostosis were identified (4:1 male-to-female ratio).
- The most common pattern was multi-sutural synostosis, involving sagittal and bilateral lambdoid sutures (7/10).
- Eight patients required surgery, including fronto-orbital advancement and various calvarial remodeling techniques; 8/10 had pre-operative hind brain herniation.
Conclusions:
- Sagittal and lambdoid suture involvement is characteristic of ERF-related craniosynostosis.
- Management necessitates tailored surgical planning due to variable suture fusion patterns.
- Individualized approaches are crucial for achieving optimal outcomes in ERF-related craniosynostosis.
Introduction:
ERF mutation is one of the most recently identified genetic aberrations associated with syndromic craniosynostosis. Data on the pattern of craniosynostosis, surgical management of ERF-related craniosynostosis and outcomes is limited. We report on our single-centre experience in paediatric cohort of patients with syndromic craniosynostosis secondary to ERF mutation.
Methods:
A retrospective review of all paediatric craniofacial cases was performed over an 8-year period (2014-2022). All patients with genetically confirm ERF-related craniosynostosis were identified, and clinical parameters including, age, sex, pattern of craniosynostosis, associated tonsillar herniation and follow-up period were further analysed from electronic clinical and imaging systems. All patients were selected and discussed in multidisciplinary craniofacial meeting (composed of neurosurgical, maxillofacial, plastics and genetics teams) prior to any surgical intervention.
Results:
Overall, 10 patients with ERF-related craniosynostosis were identified with a male-to-female ratio of 4:1 with mean age at the time of surgery of 21.6 months with a mean follow-up period of 5.2 years. ERF-confirmed cases led to variable craniosynostosis pattern with multi-sutural synostosis with concurrent sagittal and bilateral lambdoid involvement as the most common pattern (7/10). No patient pre-operatively had evidence of papilloedema on ophthalmological assessment. Eight out of 10 patients had associated low-lying tonsils/hind brain hernia pre-operatively. Eight out of 10 patients required surgery which included 2 fronto-orbital advancement, 3 calvarial remodelling, 2 posterior calvarial remodelling/release and 1 insertion of ventriculoperitoneal shunt.
Conclusion:
Involvement of sagittal and lambdoid sutures is the most common pattern of craniosynostosis. ERF-related craniosynostosis can have variable pattern of suture fusion, and management of each patient requires unique surgical planning and execution based on clinical needs for the optimal outcomes.
