TY - JOUR
T1 - Primary Delayed Onset Craniosynostosis in a Child With ERF-Related Craniosynostosis Syndrome and Familial Cerebral Cavernous Malformation Syndrome
AU - Radu, Stephanie
AU - Jedrzejewski, Breanna
AU - Urbinelli, Leo
N1 - Publisher Copyright:
© 2022, American Cleft Palate-Craniofacial Association.
PY - 2023/10
Y1 - 2023/10
N2 - 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.
AB - 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.
KW - craniosynostosis
KW - primary delayed onset craniosynostosis
KW - syndromic craniosynostosis
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U2 - 10.1177/10556656221088743
DO - 10.1177/10556656221088743
M3 - Article
C2 - 35313736
AN - SCOPUS:85127337575
SN - 1055-6656
VL - 60
SP - 1321
EP - 1325
JO - Cleft Palate Journal
JF - Cleft Palate Journal
IS - 10
ER -