Craniofacial characterization of Marfan Syndrome.

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) 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.