Symptoms And Treatment Of Uni / Bi Lateral Coronal Synostosis Syndrome
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Saethre-Chotzen syndrome is a craniosynostosis which the main clinical feature is the presence of uni/bi-lateral coronal synostosis. Other facial clinical features are strabism, bulgy eyes and small sized ears with a peculiar prominent cus. Patients can also present syndactily of digits with various severities.
Mutations in Twist1 are the only responsible for this specific syndrome. The mutations so far observed lead to the production of truncated or non-functional TWIST protein. Saethre-Chotzen syndrome is caused by haploinsufficiency for the TWIST gene. For this reason the mouse model proposed for this syndrome is a Twist+/− heterozygous mouse.
Several studies have evaluated the Saethre-Chotzen mouse model at various ages and focusing on different parameters. Homozygous Twist null mice present an embryonic lethal phenotype. In embryonic and new-born studies it has been reported the presence of extra toes in one or both hindfeet in Twist+/− heterozygotes, as well as minor abnormalities of several bones of the calvarium, including the squamosal, interparietal, and supraoccipital bones. From P9 to P13 we can observe in these mice an abnormal coronal suture closure process that it has been shown to be ruled by endochondral ossification. The coronal suture fusion is not the only defect that has been observed at the skull level of Twist+/- mice. In fact these mice present a limited regenerative capacity of the cranial vault (analysed through a resynostostosis model), and