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

Dolci, Claudia; Pucciarelli, Valentina; Codari, Marina; Marelli, Susan; Trifirò, Giuliana; Pini, Alessandro; Sforza, Chiarella

doi:10.15221/16.098

Cited by 7 publications

(10 citation statements)

References 30 publications

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“…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 ).…”

Section: Methodssupporting

confidence: 63%

“…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.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 90%

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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: Methodssupporting

confidence: 63%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 90%

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

et al. 2017

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“…It has already been applied to morphometric analysis of the face, and it has been suggested as a future instrument for early recognition of the syndromes (Dem sar et al, 2013;Goodwin et al, 2014). Moreover, morphometric analysis has already been proposed as a valid instrument to address other syndromes that have wide clinical manifestations or require early diagnosis (Goodwin et al, 2014;Dolci et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

“…The aim of this study is to perform a 3 D stereophotogrammetric assessment of the Glut1‐DS facial phenotype to quantify facial shape and size variations through multivariate statistical techniques (Bhuiyan et al, ; Goodwin et al, ; De Giorgis et al, ; Dolci et al, ).…”

Section: Introductionmentioning

confidence: 99%

The face of Glut1‐DS patients

et al. 2017

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Glut1 deficiency syndrome (Glut1-DS) is a neurological and metabolic disorder caused by impaired transport of glucose across the blood brain barrier (BBB). Mutations on the SCL2A1 gene encoding the glucose transporter protein in the BBB cause the syndrome, which encompasses epilepsy, movement disorders, and mental delay. Such variability of symptoms presents an obstacle to early diagnosis. The patients seem to share some craniofacial features, and identification and quantification of these could help in prompt diagnosis and clinical management. We performed a three-dimensional morphometric analysis of the faces of 11 female Glut1-DS patients using a stereophotogrammetric system. Data were analyzed using both inter-landmark distances and Principal Component Analysis. Compared with data collected from age-, sex-, and ethnicity-matched control subjects, common and homogenous facial features were identified among patients, which were mainly located in the mandible and the eyes. Glut1-DS patients had a more anterior chin; their mandibular body was longer but the rami were shorter, with a reduced gonial angle; they had smaller and down-slanted eyes with a reduced intercanthal distance. This study highlights the importance of morphometric analysis for defining the facial anatomical characteristics of the syndrome better, potentially helping clinicians to diagnose Glut1-DS. Improved knowledge of the facial anatomy of these patients can provide insights into their facial and cerebral embryological development, perhaps further clarifying the molecular basis of the syndrome. Clin. Anat. 30:644-652, 2017. © 2017 Wiley Periodicals, Inc.

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The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management

et al. 2021

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Purpose of Review Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5–10,000 (Chiu et al. Mayo Clin Proc. 89(1):34–42, 146, Dietz 3, Loeys et al. J Med Genet. 47(7):476–85, 4). Recent Findings The vascular complications of MFS still pose the greatest threat, but effective management options, such as regular cardiac monitoring and elective surgical intervention, have reduced the risk of life-threatening cardiovascular events, such as aortic dissection. Although cardiovascular morbidity and mortality remains high, these improvements in cardiovascular management have extended the life expectancy of those with MFS by perhaps 30–50 years from an estimated mean of 32 years in 1972 (Dietz 3, Gott et al. Eur J Cardio-thoracic Surg. 10(3):149–58, 147, Murdoch et al. N Engl J Med. 286(15):804–8, 148). The musculoskeletal manifestations of MFS, which to date have received less attention, can also have a significant impact on the quality of life and are likely to become more important as the age of the Marfan syndrome population increases (Hasan et al. Int J Clin Pract. 61(8):1308–1320, 127). In addition, musculoskeletal manifestations are often critically important in the diagnosis of MFS. Summary Here, we review the main clinically relevant and diagnostically useful musculoskeletal features of MFS, which together contribute to the “systemic features score” (referred to hereafter as systemic score), part of the revised Ghent nosology for MFS. We discuss current treatment strategies and highlight the need for a multidisciplinary approach to diagnosis and management. Finally, we review new pharmacological approaches that may be disease modifying and could help to improve the outcome for individuals with this syndrome.

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

Cited by 7 publications

References 30 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

The face of Glut1‐DS patients

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management

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