Primary delayed onset craniosynostosis is defined as premature suture fusion that developed despite clear radiographic evidence of normal postnatal calvarial configuration and patent sutures earlier in life. It is rare in the literature and typically presents as secondary synostosis. In this brief clinical study, primary delayed onset craniosynostosis is described in its unique presentation at 4 years of age with a complex genetic history including ERF-related craniosynostosis syndrome and familial cerebral cavernous malformation syndrome. Although the delayed onset clinical course of ERF-related craniosynostosis syndrome has not been well described in the literature, our review suggests that it is distinctive to ERF-related craniosynostosis and should be considered when cases present without a history of trauma, when there is a positive family history, and particularly when cases present late onset; after 1 year of age.
Objective: The gold standard for diagnosis of craniosynostosis is a clinical examination and motionless head computed tomography (CT). Computed tomography sedation is associated with increased cost, resource utilization, medical, and possible developmental risks. This study investigates whether a “feed and swaddle” protocol can be used to achieve diagnostic quality craniofacial imaging without the use of infant sedation. Design: Prospective cohort study. Setting: Tertiary academic medical center. Patients: Ninety patients <18 months of age undergoing evaluation for craniosynostosis from 2012 to 2018. Interventions: A feed and swaddle protocol. Main Outcome Measures: Diagnostic level imaging without the use of infant sedation. Results: Eighty-five (94%) achieved a diagnostic quality craniofacial CT scan using the “feed and swaddle” method. Mean patient age was 24.0 ± 10.0 weeks. Craniosynostosis was diagnosed in 74% of patients. Mean age of patients with successful completion of a CT scan was 23.7 ± 9.6 weeks, compared to 27.2 ± 17.1 weeks for unsuccessful completion. Mean weight for the successful group was 15.6 ± 2.9 pounds and 15.9 ± 2.5 pounds for the unsuccessful group. Mean travel distance was 59.2 ± 66.5 miles for successful patients and 66.5 ± 61.5 miles for unsuccessful patients. For the unsuccessful patients, there were no delays in surgical planning or scheduling. Conclusion: The “feed and swaddle” protocol described here is an effective alternative to infant sedation for motionless craniofacial CT imaging.
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