Paper 15.054

C. Dolci et al., "3D Craniofacial Morphometric Analysis of Young Subjects with Marfan Syndrome: A Preliminary Report", in Proc. of 6th Int. Conf. on 3D Body Scanning Technologies, Lugano, Switzerland, 2015, pp. 54-60,


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


Claudia DOLCI 1, Valentina PUCCIARELLI 1, Marina CODARI 1, Daniele M. GIBELLI 1, Susan MARELLI 2, Giuliana TRIFIRÒ 3, Alessandro PINI 2, Chiarella SFORZA 1

1 Dipartimento di Scienze Biomediche per la Salute, Università degli Studi di Milano, Milano, Italy;
2 Centro Malattie Rare, MarfanClinic, A.O. Luigi Sacco, Milano, Italy;
3 U.O. Pediatria, A.O. Salvini, Rho (Milano), Italy


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.


Full paper: 15.054.pdf
Proceedings: 3DBST 2015, 27-28 Oct. 2015, Lugano, Switzerland
Pages: 54-60
DOI: 10.15221/15.054

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