Craniofacial characterization of Marfan Syndrome

Abstract

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.

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

“…These are dolichocephaly (relatively long skull), enophthalmos (abnormally retro-positioned globe with respect to the bony orbit), down-slanting palpebral fissures (the external palpebral fissure sits below the level of the internal one), malar hypoplasia (underdevelopment of the cheek bone), and retrognathia (lower jaw is set further back than the upper jaw); a patient must exhibit at least three of the five features listed in order to score 1 point. In a case–control study, retrognathia and down-slanting palpebral fissures were the most prevalent facial features in the MFS population, and this is supported by other studies [ 95 – 97 ].…”

“…Despite evidence that a high-arched palate and associated dental crowding is present in a large proportion of MFS patients, this feature was removed from the current nosology “because of lack of perceived specificity” [ 4 , 96 , 103 ]. Although no longer a formal contributor to the systemic score, when combined with other reported orthodontic features such as cross-bite, Class II molar occlusion, and potential increased risk of dental caries, it appears that oral manifestations of MFS are often identifiable on routine examination [ 95 , 104 , 105 ]. An awareness of these features among dental practitioners and orthodontists is helpful for raising the suspicion of MFS due to the risk of bacterial endocarditis in those with heart valve involvement, which may warrant antibiotic prophylaxis [ 3 , 105 , 106 ].…”

Marfan syndrome in a Ghanaian male: The diagnostic challenges

“…The usefulness of craniofacial abnormalities in making a diagnosis is subjective, being dependent on the experience of the examiner. These features include enophthalmos, down slanting of the external palpebral fissures compared to the internal, malar hypoplasia, and dolichocephaly (long skull) 33 . Other orthodontic abnormalities, not incorporated into the Ghent nosology are a high‐arched palate and dental overcrowding.…”