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.

• Authors: T M Choi, O W Lijten, I M J Mathijssen, E B Wolvius, E M Ongkosuwito
• Journal: Clinical oral investigations (Clin Oral Investig) Vol. 26 Issue 3 Pg. 2927-2936 (Mar 2022) ISSN: 1436-3771 [Electronic] Germany
• PMID: 34904178 (Publication Type: Journal Article)
• Copyright: © 2021. The Author(s).

Chemical References

• Basic Helix-Loop-Helix Transcription Factors
• TCF12 protein, human

Topics

• Acrocephalosyndactylia
• Adolescent
• Basic Helix-Loop-Helix Transcription Factors
• Cephalometry
• Child
• Child, Preschool
• Craniosynostoses
• Humans
• Syndrome