Clusters in craniofacial microsomia and microtia according to facial morphology and craniofacial anomalies

Associated craniofacial malformations such as ocular anomalies and macrostomia are frequently seen in craniofacial microsomia (CFM). This study assessed associations between objectively measured facial morphology and clinically observed craniofacial malformations in patients with CFM in order to identify clinically significant patient clusters based on these characteristics for preferential screening purposes. In this multicenter cross-sectional cohort study, facial morphology was assessed from three-dimensional (3D) photographs using asymmetry index (ASI) and facial signature (FS) scores, as well as a principal components (PC) analysis of FS scores. Differences in ASI, FS and PC scores were calculated for patients with and without craniofacial anomalies. A clustering analysis was applied to identify patient clusters based on facial morphology and the presence of craniofacial anomalies. A total of 179 patients were included, and significantly higher ASI and FS scores were found in patients with ocular anomalies, skin adnexa-related anomalies, clefting, inner ear anomalies, speech- and language difficulties and vision difficulties compared to patients without these anomalies or difficulties. Two clusters were identified, with significant differences in PC scores, craniofacial anomalies, as well as speech- and language- and vision difficulties. CONCLUSION: Patients with ocular anomalies, skin adnexa-related anomalies, clefting and aural atresia, or anomalies in two or more of these groups had more facial hypoplasia, while patients with anomalies in two or fewer of these groups had less facial hypoplasia. 3D photography may be a promising tool to identify patients that should be screened for these concurrent craniofacial anomalies. WHAT IS KNOWN: • CFM is a hetergeneous condition and patients may have various craniofacial anomalies. • 3D photography can be used to measure facial shape in patients with CFM. WHAT IS NEW: • Patients with more facial hypoplasia measured using 3D photography frequently have more associated craniofacialanomalies. • 3D photography could be a promising tool for identifying patients who should be preferentially screened forassociated anomalies.