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

Abstract

Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition. 3D facial images of 61 Italian subjects with MFS, aged 16-64 years (21 males, 38 ± 15 years; 40 females, 41 ± 13 years) were obtained by stereophotogrammetry. From the coordinates of 17 soft-tissue facial landmarks, linear distances and angles were computed; z score values were calculated to compare patients with healthy reference subjects (400 males, 379 females) matched for sex and age. Student's t test was used for statistical comparisons. All subjects with MFS showed greater facial divergence (P < 0.001; mean z score +1.9) and a lower facial height index (P < 0.001; mean z score -1.9) than reference subjects, both values being influenced by a shorter mandibular ramus (P < 0.001; mean z score -1.9) and a mild but significant increase in facial height (P < 0.001; mean z score +1.2). Palpebral down-slanting was found in 85% of MFS subjects. There were no sex differences. Quantitative abnormalities identified in this study enrich information about the facial dysmorphism in MFS and confirm its usefulness for early recognition of the disease. Clin. Anat. 31:380-386, 2018. © 2017 Wiley Periodicals, Inc.

Craniofacial characterization of Marfan Syndrome

“…This finding may be the result of the age‐dependent nature of some features . The appearance of the shorter mandibular height (for older patient in our sample) is similar to findings recently reported using stereophotogrammetry …”

“…To assess facial features, we included only those photographs that were diagnostic and found that 43% of subjects presented with dolichocephaly compared to 47% of paediatric MFS patients in a study with a much larger sample size (N = 32) Retrognathia and down‐slanting palpebral fissures were the two most prevalent facial features in our population being observed in 54% and 62% of our sample population, respectively. A previous study of paediatric MFS patients reported the presence of retrognathia to be 56%, 11 Compared to other studies that had higher numbers of adults, our findings of dolichocephaly were decreased, and may exist because the subjects have not “grown into” these features …”

“…To date, few studies quantified the facial features of MFS described in the Ghent Nosology. A more recent study provided quantitative assessment of the MFS patient using 3D stereophotogrammetry and therefore offers a useful comparison with our study . We report here the first anthropometric study of patients affected with MFS in order to (a) quantify craniofacial features in a cohort of child, adolescent, and young adult patients with a confirmed diagnosis of MFS, and, (b) compare them to a control population with the goal of identifying those features that are diagnostic for MFS.…”

Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series

“…Enophthalmia occurs and the palpebral fissures are typically downslanting. 13 A narrow nasal airway with compensatory open mouth-breathing can lead to the development of a typical adenoid face. 14 Because the syndrome is inherited in an autosomal dominant fashion, a family history can contribute to the diagnosis.…”

Three-Dimensional Soft-Tissue Facial Morphometry in Caucasian Obese Adults

“…Indeed, quantitative soft-tissue facial data in the three dimensions can currently be obtained by digital, computerized anthropometry [10][11][12][13][14][15][16][17][18][19][20][21]. Current technology allows fast and non-invasive optical scans of facial surface, providing a global assessment of patients.…”