Table 3 - uploaded by Paul D Sponseller
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Diagnostic utility of Marfan syndrome (MFS) associated facial features in subjects, as rated by expert physicians
Source publication
We examined the prevalence of known facial features of Marfan syndrome (MFS)-dolicocephaly, malar hypoplasia, enophthalmos, retrognathia, and down-slanting palpebral fissures-and the diagnostic utility (sensitivity, specificity, accuracy, predictive values, and likelihood ratios) of using them for screening and diagnosis.
Frontal and lateral photog...
Context in source publication
Context 1
... facial features alone, experienced physicians correctly discriminated between subjects (patients with MFS) and controls with an overall 72.6% accuracy rate (Table 3). Overall, facial features had a sensitivity of 53.9%, a specificity of 91.2%, a PPV of 85.8%, an NPV of 67.2%, a PLR of 6.9%, and an NLR of 50% for MFS. ...
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Citations
... Although it is possible that the slender fingers were more related to Van Dyck's Cifani & Monetti, 1992) hyperlaxity of Scaglia's joints). Furthermore, an inspection of Cesare Scaglia's face reveals deep-set eyes resembling enophthalmos, another feature of MFS (Ting et al., 2010). Similarly, as is the case with slender fingers, deep-set eyes seem to be a recurring feature present not only in the portraits from the National Gallery, but also in other portraits depicting the character of Cesare Alessandro Scaglia di Verrua (Figure 1a-h). ...
Iconodiagnosis is the discipline that combines a medical and humanistic approach to provide a heuristic insight into the historical moment represented in the work of art by overlaying a presumable pathophysiological context. The concept of iconodiagnosis, first introduced in 1983 by a Harvard psychiatrist Anneliese Alma Pontius [Pontius, 1983] was later embraced by many medical doctors (e.g. [Bianucci et al., 2016; Benedicenti et al., 2017; Charlier, 2007; Als et al., 2002; Ashrafian, 2018; Kluger, 2019; Bukvic and Elling, 2015; Emery, 1996]) who recognized it as „an enjoyable exercise“ of clinical reasoning [Kluger, 2020] and an invaluable tool in medical education [Ferrara, 2021]. Here we use the iconodiagnostic approach to analyze two portraits of the Italian cleric and diplomat Cesare Alessandro Scaglia di Verrua made by Flemish Baroque artist Sir Anthony van Dyck exhibited at the National Gallery in London.
... They showed that facial features could be used as an initial screening tool but with low sensitivity. Thus, other diagnostic methods need to be completed [14]. ...
... To sum up, multiple studies on MFS have fulfilled an important role in collecting data about this rare hereditary disorder; however, this work needs to be continued. Some reports on the high positive predictive value of the combination of three phenotypic features emphasize the usefulness of physical "red flags" of MFS [13,14]. Our study highlights the need to raise awareness of these physical features of MFS. ...
Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical spectrum, the diagnosis of MFS still remains sophisticated. The aim of the study was to determine if there exist phenotypic features that can play the role of “red flags” in cases of MFS suspicion. The study population included 306 patients (199 children and 107 adults) who were referred to the Department of Pediatric Cardiology due to suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 109 patients and marfanoid habitus in 168 patients. The study excluded 29 patients with other hereditary thoracic aneurysm syndromes. Comparative analysis between patients with Marfan syndrome and marfanoid habitus was performed. Symptoms with high prevalence and high positive likelihood ratio were identified (pectus carinatum, reduced elbow extension, hindfoot deformity, gothic palate, downslanting palpebral fissures, lens subluxation, myopia ≥ 3 dioptres remarkably high stature). The differentiation between patients with MFS and marfanoid body habitus is not possible by only assessing external body features; however, “red flags” could be helpful in the screening phase.
... The clinical utility of facial features in the detection of MFS is naturally dependent on the experience of the examining clinician. Ting et al. (2010) reported that experienced clinicians can discriminate between patients and controls with an overall accuracy rate of ~ 70%, but those with limited clinical exposure to MFS are unlikely to reach the same precision [98]. In the same study, variation in facial features with age was also noted, and this affected the clinician's ability to recognise MFS. ...
... The clinical utility of facial features in the detection of MFS is naturally dependent on the experience of the examining clinician. Ting et al. (2010) reported that experienced clinicians can discriminate between patients and controls with an overall accuracy rate of ~ 70%, but those with limited clinical exposure to MFS are unlikely to reach the same precision [98]. In the same study, variation in facial features with age was also noted, and this affected the clinician's ability to recognise MFS. ...
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.
... Information about facial dysmorphism in Marfan syndrome may be useful for early recognition of the disease [286,287]. A recent study using 3-dimensional skeletal imaging reported greater facial divergence and a lower facial height index as a uniform feature in adults with Marfan syndrome [286]. ...
... The facial features listed in the revised Ghent criteria [170] comprise dolichocephaly, malar hypoplasia, enophthalmus, retrognathia, and downslanting palpebral fissures. These have been found to yield a diagnostic sensitivity of 28-54% and a specificity of 91-99% for Marfan syndrome [287,290]. The craniofacial features may increase the risk of obstructive sleep apnea [289] and cause dental crowding and overjet [288] necessitating orthodontic treatment in some cases [288]. ...
Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.
Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive- and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction.
Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.
... Ting and colleagues evaluated facial features using photographs of patients with a confirmed diagnosis of MFS and ageand sex-matched controls. 9 In another study, facial photographs of MFS patient were analyzed for the presence of the five diagnostic craniofacial features. 9 Overall, experienced physicians were able to discriminate between subjects and controls with an accuracy of 72.6% solely on the basis of assessing facial features. ...
... 9 In another study, facial photographs of MFS patient were analyzed for the presence of the five diagnostic craniofacial features. 9 Overall, experienced physicians were able to discriminate between subjects and controls with an accuracy of 72.6% solely on the basis of assessing facial features. 9 Similarly, Sponseller and colleagues evaluated the diagnostic sensitivity and accuracy of the presence craniofacial and other skeletal features, finding that craniofacial features were the most sensitive discriminator between individuals with and without MFS. ...
... 9 Overall, experienced physicians were able to discriminate between subjects and controls with an accuracy of 72.6% solely on the basis of assessing facial features. 9 Similarly, Sponseller and colleagues evaluated the diagnostic sensitivity and accuracy of the presence craniofacial and other skeletal features, finding that craniofacial features were the most sensitive discriminator between individuals with and without MFS. 8 Also, the combination of 22 craniofacial features with a positive thumb sign provided the highest diagnostic accuracy. ...
Objective
The morbidity and mortality associated with the Marfan Syndrome (MFS) warrant timely diagnosis and intervention that can improve long‐term prognosis. The aim of this study was to test the hypothesis that a distinct craniofacial morphology exists for patients with MFS that can be described quantitatively and qualitatively.
Methods
Subjects with a positive diagnosis of MFS were recruited for this study (N = 36). Craniofacial anthropometric measurements were made on each subject and compared to established norms of age‐ and sex‐matched controls using z‐scores calculated for measurements of MFS patients. Lateral and frontal photographs were obtained to make qualitative assessments and describe facial features of subjects, and a clinical examination was completed to document occlusal relationships.
Results
The subjects were primarily female (58%) ranging in age between 4 and 57 years (mean age 10.7 ± 6.0 years). Comparison of craniofacial measurements revealed that for 10 of the 12 measurements, ≥65% of the study population had a z‐score of ± 2 and fell within the normal range for facial dimension. For 2 of the 12 measurements, over half of the subjects fell outside of the normal range (z‐score < −2 or > 2) for facial dimension. Specifically, the majority of participants resided in the supernormal category for biocular width and the subnormal category for width of the face. Photographic assessment revealed retrognathia (54%) and down‐slanting palpebral fissures (62%) were most prevalent in MFS patients.
Conclusion
Our data suggest there are quantitative differences in the facial morphology of patients with MFS when compared to a control population.
... These features are included in the current Ghent diagnostic systemic score checklist but they lack clear and quantitative definitions. 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). ...
Introduction:
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.
Materials and methods:
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.
Results:
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.
Conclusions:
Quantitative abnormalities identified in this study enrich information about the facial dysmorphism in MFS and confirm its usefulness for early recognition of the disease. This article is protected by copyright. All rights reserved.
... The orofacial features in our case have played a confirmatory role in making the MFS diagnosis. It is well accepted that these features are more specific than sensitive and are postulated to be used in prioritizing patients for appropriate referrals and detailed examination [12,14]. ...
Key Clinical Message
This article reports the oral manifestations of an unusual presentation of Marfan syndrome (MFS) and provides an evidence to the importance of recognizing the oral features in confirming the diagnosis of MFS. Dentists have a vital role in confirming the diagnosis of developmental disorders that involve the craniofacial compendium.
... They chose not to include facial features, because clear-cut and reproducible criteria for these characteristics were not available or their assessment required specialized clinical expertise [6]. A study by Ting et al. based on the examination of 2D facial photographs of subjects with MFS concluded that facial features do not have a high sensitivity for MFS and they can be used as an initial screening tool [33]. Few studies investigated quantitative craniofacial features associated with MFS [7,8,15]. ...
... A recent study by Ting et al. analyzed the diagnostic value of facial features for MFS, concluding that the recognition of a specific facial phenotype can be used as an initial screening test. However, the study performed only a qualitative evaluation of two-dimensional photographs, in frontal and lateral views [28]. Anthropometry allows for a safe and non-invasive detailed qualitative and quantitative assessment of facial morphology and could help in the early diagnosis of the syndrome in clinical practice. ...
... In addition, these facial features are not highly sensitive for the presence of Marfan syndrome. 25 The palate is often highly arched and narrowed (Fig 7). ...
Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. The guidance in this report is designed to assist the pediatrician in recognizing the features of Marfan syndrome as well as caring for the individual with this disorder.
