%0 Journal Article
%T New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach.
%A Bloch K
%A Geoffroy M
%A Taverne M
%A van de Lande L
%A O'Sullivan E
%A Liang C
%A Paternoster G
%A Moazen M
%A Laporte S
%A Khonsari RH
%J Orphanet J Rare Dis
%V 19
%N 1
%D 2024 May 18
%M 38762603
%F 4.303
%R 10.1186/s13023-024-03197-8
%X <B>BACKGROUND: </B>Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional indications. Metopic ridges also originate from premature metopic closure but are only associated with mid-frontal bulging; their surgical correction is rarely required. Differential diagnosis between these two conditions can be challenging, especially in minor trigonocephaly.<BR><B>METHODS: </B>Two hundred seven scans of patients with trigonocephaly (90), metopic rigdes (27), and controls (90) were collected. Geometric morphometrics were used to quantify skull and orbital morphology as well as the interfrontal angle and the cephalic index. An innovative method was developed to automatically compute the frontal curvature along the metopic suture. Different machine-learning algorithms were tested to assess the predictive power of morphological data in terms of classification.<BR><B>RESULTS: </B>We showed that control patients, trigonocephaly and metopic rigdes have distinctive skull and orbital shapes. The 3D frontal curvature enabled a clear discrimination between groups (sensitivity and specificity > 92%). Furthermore, we reached an accuracy of 100% in group discrimination when combining 6 univariate measures.<BR><B>CONCLUSIONS: </B>Two diagnostic tools were proposed and demonstrated to be successful in assisting differential diagnosis for patients with trigonocephaly or metopic ridges. Further clinical assessments are required to validate the practical clinical relevance of these tools.