Primary Delayed Onset Craniosynostosis in a Child With ERF-Related Craniosynostosis Syndrome and Familial Cerebral Cavernous Malformation Syndrome

• Published in: The Cleft palate-craniofacial journal p. 10556656221088743
• Main Authors: Radu, Stephanie, Jedrzejewski, Breanna, Urbinelli, Leo
• Format: Journal Article
• Language: English
• Published: United States 01.10.2023
• Subjects: syndromic craniosynostosis; primary delayed onset craniosynostosis; craniosynostosis
• ISSN: 1545-1569
• DOI: 10.1177/10556656221088743

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.