Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis

Abstract

Objectives To determine whether the midface of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is hypoplastic compared to skeletal facial proportions of a Dutch control group. Material and methods We included seventy-four patients (43 patients with Muenke syndrome, 22 patients with Saethre-Chotzen syndrome, and 9 patients with TCF12-related craniosynostosis) who were referred between 1990 and 2020 (age range 4.84 to 16.83 years) and were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children’s Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands. The control group consisted of 208 healthy children. Results Cephalometric values comprising the midface were decreased in Muenke syndrome (ANB: β = –1.87, p = 0.001; and PC1: p < 0,001), Saethre-Chotzen syndrome (ANB: β = –1.76, p = 0.001; and PC1: p < 0.001), and TCF12-related craniosynostosis (ANB: β = –1.70, p = 0.015; and PC1: p < 0.033). Conclusions In this study, we showed that the midface is hypoplastic in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis compared to the Dutch control group. Furthermore, the rotation of the maxilla and the typical craniofacial buildup is significantly different in these three craniosynostosis syndromes compared to the controls. Clinical relevance The maxillary growth in patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is impaired, leading to a deviant dental development. Therefore, timely orthodontic follow-up is recommended. In order to increase expertise and support treatment planning by medical and dental specialists for these patients, and also because of the specific differences between the syndromes, we recommend the management of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis in specialized multidisciplinary teams.

Early posterior vault distraction osteogenesis changes the syndromic craniosynostosis treatment paradigm: long-term outcomes of a 23-year cohort study

“…On the other hand, FOA may be more advantageous as the primary reshaping procedure for Muenke craniosynostosis to address isolated frontal bossing, turricephaly, and less severe cranial dysmorphology [38,39]. This is supported by the relatively greater frontal bossing angle, greater anterior cranial height, and lower Turricephaly Index in our Muenke and Saethre-Chotzen groups at baseline upon craniometric analysis.…”

A novel perspective of calvarial development: the cranial morphogenesis and differentiation regulated by dura mater

“…As one of the most common congenital malformations in human newborns, calvarial malformations are manifested as craniosynostosis resulting from the premature closure of cranial sutures, found in Saethre-Chotzen Syndrome, etc. ( Choi et al, 2021 ; Yu et al, 2021 ), and enlarged fontanelles caused by delayed suture closure, such as in Cleidocranial Dysplasia ( Pan et al, 2017 ; Thaweesapphithak et al, 2022 ). Currently, the osteogenic differentiation at the ossifying front and stem cell properties of sutures attract most concerns on calvarial development ( Chen et al, 2020 ; Yu et al, 2021 ).…”