Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to TWIST1 Gene Deletions and Review of the Literature.
Rama J AlawnehAndrea L JohnsonJulie Elizabeth Hoover-FongEric M JacksonJordan P SteinbergGretchen MacCarrickPublished in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (2022)
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.
Keyphrases
- multiple sclerosis
- preterm infants
- case report
- copy number
- end stage renal disease
- epithelial mesenchymal transition
- intellectual disability
- genome wide
- chronic kidney disease
- ejection fraction
- newly diagnosed
- patient reported outcomes
- gene expression
- genome wide identification
- signaling pathway
- transcription factor