Saethre-Chotzen syndrome: Case report and literature review

Abstract

Saethre-Chotzen syndrome (SCS) belongs to a group of rare congenital disorders connected with craniosynostosis and syndactyly. The purpose of this paper is to provide a review of the literature, to collect all reported symptoms and to describe the case of an 11-year-old female with SCS. The electronic databases PubMed and Scopus were searched to gain all symptoms of SCS described in the literature. The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism. Less common symptoms include hearing loss, renal abnormalities and cardiac defects. Intraoral manifestations of SCS include maxillary hypoplasia, mandibular prognathism and high arched palate. Moreover, in some patients mental disability is observed, which may be connected with the size of the deletion in the Twist gene. There are no pathognomonic symptoms of SCS, which would indicate a diagnostic problem. Our patient displayed small dysmorphic changes within the skull and limbs and proper intellectual development. On the basis of an intraoral, extraoral examination and X-rays, she was diagnosed with relative mandibular prognathism. Currently, she is treated with a removable appliance. This report emphasizes a considerable variability of symptoms in SCS and highlights the most common features.

Development of a Bioassay for Continuous Monitoring of TWIST1 Activity

“…TWIST1 gene has two exons, and is located on the short arm of chromosome 7 at position 21.1. Mutations of the TWIST1 gene cause the Saethre-Chotzen syndrome (SCS), that is characterized by syndactyly, craniosynostosis, ptosis and hypertelorism [1,3]. Expression of TWIST1 has also been detected in stem cells within mesoderm-derived mesenchymal tissues (muscle, adipose tissue, and bone marrow) [1], or mesenchymal stem cells and in lymphocyte maturation [4].…”

“…Furthermore, TWIST1 has been under investigation for its tumorigenic properties and is highly considered to promote tumor development by inhibition of p53-dependent cell death, and therefore escaping senescence and apoptosis [11]. TWIST1 involvement in tumor angiogenesis and chemoresistance has also been reported [3].…”

“…It is specifically linked to head and neck cancers, including nasopharyngeal and esophageal squamous cell carcinoma [23][24][25] , [26] , [9]. Moreover, TWIST1 over-expression has also been reported in non-epithelial cancer types such as melanoma, glioblastoma, and chronic myelogenous leukemia (CML) [3] , [27] , [28] , [29].…”

“…The role of TWIST as a prognostic marker for cancer progression and poor outcome has been explored in multiple studies. While TWIST1 overexpression correlates with poor outcome and decreased survival of patients suffering of ovarian, cervical, lung, oral and esophageal carcinomas [2] , [30], its expression alone is not always in arrangement with either cancer progression or patients' poor prognosis, what has prevented using TWIST1 as a prognostic assessment marker for clinical applications such as patient stratification and therapy planning [2,3].…”

Lateral and Frontal Cephalometric Measurements in a Cohort With Saethre-Chotzen Syndrome

“…Midface retrusion seems to be a common facial feature. In addition, while facial asymmetry has been reported, this has been limited to visual assessments of affected families (von Gernet et al, 1996;Clauser et al, 2000;Nascimento et al, 2004;Zechi-Ceide et al, 2012;Pelc and Mikulewicz, 2018). Since the syndrome is rare, comprehensive materials are not readily available and the mentioned findings are based on observations of single individuals or families.…”