Marfan's syndrome: Clinical manifestations in the oral-craniofacial area, biophysiological roles of fibrillins and elastic extracellular microfibers, and disease control of the fibrillin gene

Nishikawa, Tetsunari; Yamamoto, Toshiro; Honjo, Ken-ichi; Ichioka, Hiroaki; Yamamoto, Kenta; Kanamura, Narisato; Kato, Hirohito; Wato, Masahiro; Kubo, Toshikazu; Mori, Masahiko; Tanaka, Akio

doi:10.1016/j.ajoms.2013.02.014

Cited by 3 publications

(3 citation statements)

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“…They are usually evaluated clinically by visual inspection or at most by using head radiographs (Poole, 1989;Westling et al, 1998;Cistulli et al, 2001;De Coster et al, 2004;Ting et al, 2010;Docimo et al, 2013). Also, most patients with MFS undergo orthodontic treatment to solve teeth crowding and malocclusion, which are also due to narrow jaws and high-arched palates (De Coster et al, 2002;Nishikawa et al, 2013;Shiga et al, 2017). A timely diagnosis of MFS is crucial for improving the patient's life expectancy.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2017

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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.

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Section: Introductionmentioning

confidence: 99%

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

et al. 2017

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“…They are usually evaluated through a clinical inspection or cranial X-ray examination [7][8][9]. Besides, most subjects with MFS refer for orthodontic treatment because of narrow jaws and high-arched palate, which can lead to teeth crowding, posterior crossbite and malocclusion [10][11][12][13][14][15]. It has been suggested that craniofacial abnormalities and increased pharyngeal collapsibility due to abnormal connective tissue associated with MFS could predispose to an increased prevalence of obstructive sleep apnea, which in turn may be a risk factor for aortic dilatation [16,17].…”

Section: Introductionmentioning

confidence: 99%

3D Morphometric Evaluation of Craniofacial Features in Adult Subjects with Marfan Syndrome

Dolci¹,

Pucciarelli²,

Codari³

et al. 2016

Proceedings of the 7th International Conference on 3D Body Scanning Technologies, Lugano, Switzerland, 30 Nov.-1 Dec. 2016

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Marfan syndrome (MFS) is a hereditable disorder of the connective tissue with an estimated worldwide prevalence of 1:5000, mainly caused by alterations of the extracellular matrix protein fibrillin-1. Cardiovascular manifestations of MFS, including aortic dilation with increased risk of dissection and rupture, are the leading cause of mortality. Therefore, an early and accurate diagnosis of MFS is crucial to prevent the development of complications, even if it may be difficult, due to the variable expression of the disease. It has been suggested that craniofacial abnormalities associated with MFS could predispose to obstructive sleep apnea, which in turn may promote aortic dilation. Since in a previous preliminary study on young subjects with MFS we pointed out some quantitative facial features never described before, we extended the study on adult patients, in order to better characterize the facial phenotype associated with MFS and verify the usefulness of a 3D not invasive quantitative approach for its early recognition. 3D facial images of 49 Italian subjects diagnosed with MFS without previous history of facial injuries or surgery, aged 18-60 years (18 males, mean ± SD age 37 ± 11 years; 31 females, mean ± SD age 40 ± 11 years), and divided in 5 non-overlapping age groups, were obtained by stereophotogrammetry. From the coordinates of 50 soft-tissue facial landmarks, linear distances and angles were measured; z score values were calculated comparing patients with healthy Italian reference subjects (332 males and 329 females), matched for gender and age group. Almost all subjects with MFS (96%) showed a shorter mandibular ramus than controls (mean z score =-1.8) and 100% of subjects showed a greater facial divergence (mean z score = +2.0), thus strengthening the findings of the previous study on young subjects with MFS. Furthermore, 98% of subjects showed a reduced ratio between posterior and anterior facial height (mean z score =-1.8) and 92% of subjects showed a reduced ratio between facial width and facial height (mean z score =-1.5), being both ratios influenced by an expected but overall mild increase of facial height. Remarkable gender differences or age-specific trends were not observed. Facial abnormalities pointed out in the current 3D morphometric study could represent traits of the phenotypic expression of MFS. Furthermore, since they are in accordance with the findings of our previous study on young patients, their detection could facilitate the early diagnosis of the disease, when the phenotype of MFS is not clearly evident or has not yet been clearly expressed. Further studies on more patients are needed to confirm the promising findings.

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“…These characteristics are comprised among the criteria applied for the diagnosis of MFS and they are usually evaluated through a clinical inspection or cranial X-ray examination [7][8][9]. Subjects with MFS may also have narrow jaws, high-arched palate, which can create dental and orthodontic problems such as teeth crowding, posterior crossbite and malocclusion [10][11][12][13][14][15]. Sponseller et al included craniofacial features of MFS among highly specific signs that musculoskeletal clinicians should be aware to improve the clinical recognition of the syndrome [16].…”

Section: Introductionmentioning

confidence: 99%

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

Dolci¹,

Pucciarelli²,

Codari³

et al. 2015

Proceedings of the 6th International Conference on 3D Body Scanning Technologies, Lugano, Switzerland, 27-28 October 2015

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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.

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Marfan's syndrome: Clinical manifestations in the oral-craniofacial area, biophysiological roles of fibrillins and elastic extracellular microfibers, and disease control of the fibrillin gene

Cited by 3 publications

References 129 publications

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

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

3D Morphometric Evaluation of Craniofacial Features in Adult Subjects with Marfan Syndrome

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

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