Marfan syndrome is a heritable connective tissue disorder characterized by multisystem involvement, particularly affecting the skeleton. We performed an iconodiagnostic evaluation of the Etruscan bronze statue "L'Ombra della Sera" to assess whether its morphological features may reflect a real connective tissue phenotype rather than symbolic elongation. Systemic features were evaluated according to the revised Ghent nosology. The statue exhibits disproportionate longitudinal growth, thoracic deformities, craniofacial characteristics, and pedal findings consistent with a systemic connective tissue phenotype. Although limitations inherent to artistic representation must be considered, the overall morphological pattern is compatible with a MASS-Marfan spectrum phenotype. This study highlights the potential contribution of iconodiagnosis to the historical investigation of genetic disorders.
Pepe et al. (Fri,) studied this question.