Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to TWIST1 Gene Deletions and Review of the Literature.

Rama J Alawneh, Andrea L Johnson, Julie Elizabeth Hoover-Fong, Eric M Jackson, Jordan P Steinberg, Gretchen MacCarrick

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2023 Aug

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Saethre-Chotzen syndrome (SCS) is a known craniosynostosis syndrome with a variable presentation of craniofacial and somatic involvement. Congenital coronal craniosynostosis is most commonly observed in SCS; however, progressive postnatal craniosynostosis of other sutures has been reported. The authors present 2 infants with progressive postnatal craniosynostosis and SCS caused by chromosome 7p deletions including the TWIST1 gene. The evolution of their clinical features and a literature review of patients with syndromic, postnatal progressive craniosynostosis illustrate the importance of longitudinal observation and management of these patients.

Citation

Rama J Alawneh, Andrea L Johnson, Julie Elizabeth Hoover-Fong, Eric M Jackson, Jordan P Steinberg, Gretchen MacCarrick. Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to TWIST1 Gene Deletions and Review of the Literature. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 2023 Aug;60(8):1021-1028