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

Stephanie Radu, Breanna Jedrzejewski, Leo Urbinelli

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
JournalCleft Palate-Craniofacial Journal
DOIs
StateAccepted/In press - 2022
Externally publishedYes

Keywords

  • craniosynostosis
  • primary delayed onset craniosynostosis
  • syndromic craniosynostosis

ASJC Scopus subject areas

  • Oral Surgery
  • Otorhinolaryngology

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