The diagnostic value of the facial features of Marfan syndrome

Ting, Beverlie L.; Mathur, Deepti; Loeys, Bart; Dietz, Harry C.; Sponseller, Paul D.

doi:10.1007/s11832-010-0295-1

Cited by 19 publications

(21 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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 …”

Section: Discussioncontrasting

confidence: 80%

“…Studies that evaluated the efficacy and sensitivity of diagnostic criteria (comparing MFS and non‐MFS populations) found that facial features are valuable in diagnosis. Ting and colleagues evaluated facial features using photographs of patients with a confirmed diagnosis of MFS and age‐ and sex‐matched controls . In another study, facial photographs of MFS patient were analyzed for the presence of the five diagnostic craniofacial features .…”

Section: Introductionmentioning

confidence: 99%

“…Ting and colleagues evaluated facial features using photographs of patients with a confirmed diagnosis of MFS and age‐ and sex‐matched controls . In another study, facial photographs of MFS patient were analyzed for the presence of the five diagnostic craniofacial features . 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 .…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Craniofacial characterization of Marfan Syndrome

Johnson

Spruiell²,

Wiesen

et al. 2019

Orthod Craniofacial Res

View full text Add to dashboard Cite

Structured Abstract 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.

show abstract

Section: Discussioncontrasting

confidence: 80%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Craniofacial characterization of Marfan Syndrome

Johnson

Spruiell²,

Wiesen

et al. 2019

Orthod Craniofacial Res

View full text Add to dashboard Cite

show abstract

“…Though orofacial features cannot be relied on as a sole screening tool for making an initial diagnosis yet they can certainly be used to prioritise patients for appropriate referrals and detailed examination 15. The early recognition of Marfan syndrome also aids lifestyle and career guidance for the patient along with emotional counselling besides providing an opportunity for family screening and genetic evaluation of the condition.…”

Section: Discussionmentioning

confidence: 99%

Marfan syndrome

Jain¹,

Pandey²

2013

BMJ Case Reports

View full text Add to dashboard Cite

Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals.

show abstract

“…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).…”

Section: Skeletalmentioning

confidence: 99%