3D Craniofacial Morphometric Analysis of Young Subjects with Marfan Syndrome: A Preliminary Report

Abstract

Marfan syndrome (MFS) is a rare autosomic dominant disease of connective tissues mostly due to mutations in the fibrillin 1 gene. Clinical manifestations of MFS include a variety of signs and symptoms, mainly affecting the heart, blood vessels, bones, joints and eyes, and comprising craniofacial alterations. At present, diagnosis of MFS is largely based on clinical signs and family history. However, it could may be difficult, as its manifestations vary greatly and they are not always present right away. Since a life-threatening complication of MFS is aortic dissection, an early diagnosis of the disorder is essential. We aim to better describe the face of patients with MFS, identifying new quantitative morphological features which could facilitate the early diagnosis of the disease. In the current preliminary study, a group of young subjects with MFS was investigated. Three-dimensional facial images of 3 girls and 8 boys aged 5-15 years were collected by stereophotogrammetry. From the coordinates of 50 anatomical facial landmarks, linear distances and angles were measured; z score values were calculated through the comparison with data obtained from 556 control subjects matched for gender, age, and ethnicity. All subjects with MFS showed a longer face than controls, mainly due to an increased middle third (mean z score = 1.7). They also showed a longer mandibular body (mean z score = 1.4) with a shorter ramus (mean z score = -1.4) and a greater facial divergence (mean z score = 2.2). The assessment of facial features of subjects with MFS pointed out some morphometric characteristics that had never been reported in literature, alongside with other well known alterations, and suggests the usefulness of a three-dimensional quantitative approach for the recognition of facial phenotypic features of the syndrome. Nevertheless, they need to be confirmed extending the study on more patients.

The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features

“…The findings are consistent with the dolichocephaly reported as a typical craniofacial feature in subjects with MFS, dolichocephalic head‐forms having been associated with a hyperdivergent facial profile (Enlow, ). We reported the same facial features in our previous preliminary study on 11 MFS subjects aged 4–15 years (Dolci et al, ). Since these facial characteristics were also detected in young patients, their assessment could help in the early recognition of MFS so effective management and follow‐up of the disease can be implemented as quickly as possible.…”

“…The reproducibility and accuracy of the data collection procedures were verified (De Menezes et al, ). To confirm and extend the results of previous preliminary studies (Dolci et al, ), a subset of five selected midline landmarks and six paired landmarks were considered in this study (Fig. , Table ).…”

“…In previous preliminary studies on young and adult subjects with MFS using stereophotogrammetry, some morphometric abnormalities concerning the face and its parts were identified (Dolci et al, ). In this study, we focused on adults, extending the investigation to more patients and anthropometric measurements to confirm previous results and to improve our definition of the facial morphological features associated with MFS.…”

“…In previous preliminary studies on subjects with MFS, some quantitative facial features never described before were identified in addition to the already‐known phenotypic facial traits of the syndrome (Dolci et al, ). In this study, we extended the investigation to more patients and more anthropometric measurements to improve our characterization of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its timely recognition.…”

Third-Based Facial Similarities and Differences of Monozygotic Twins: A Stereophotogrammetric 3D Assessment

“…The twins were imaged following a standardized procedure: they sat in front of the system, with closed mouth and teeth in loose contact. Furthermore, they were asked to keep a neutral facial expression [15,16]. Before the facial acquisitions, 50 anthropometric landmarks were marked on their faces.…”