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

T M Choi,E B Wolvius,E M Ongkosuwito,O W Lijten,I M J Mathijssen

doi:10.1007/s00784-021-04275-y

T M Choi, E B Wolvius + Show 3 more

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https://doi.org/10.1007/s00784-021-04275-y

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Abstract

ObjectivesTo 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 methodsWe 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.ResultsCephalometric 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).ConclusionsIn 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 relevanceThe 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.

Highlights

Midface hypoplasia is one of the clinical features that was reported in Muenke syndrome and Saethre-Chotzen syndrome [1,2,3,4,5]
The intra-class correlation coefficient (ICC) for intra-observer reliability was excellent for ANB (0.983), NSL/NL (0.912), and interincisal angle (0.914); good for SNA (0.820), SNB (0.804), Ili/ML (0.853), Ils/NL (0.856), and NSL/BOP (0.807); and moderate for NSL/ML (0.573) and NL/ML (0.743)
The ICC for inter-observer reliability was good for SNA (0.801), SNB (0.822), ANB (0.838), NSL/NL (0.851), interincisal angle (0.789), and moderate for NSL/ML (0.697), NL/ML (0.619), Ils/NL (0.618), Ili/ML (0.618) and NSL/ BOP (0.725) (Table 2)

Summary

Introduction

Midface hypoplasia is one of the clinical features that was reported in Muenke syndrome and Saethre-Chotzen syndrome [1,2,3,4,5]. Muenke syndrome, SaethreChotzen syndrome, and TCF12-related craniosynostosis were often undiagnosed or misdiagnosed because of the mild and sometimes overlapping clinical features [4, 6,7,8,9]. The main overlapping clinical feature of these three syndromes is coronal suture synostosis. The distinctive main features of Muenke syndrome are carpal and tarsal fusions and hearing loss [4]. Distinctive main features of SaethreChotzen syndrome are strabismus and ptosis [10]. Because the mutation that causes TCF12-related craniosynostosis is recently discovered [6], no distinctive main features of

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