Clinical observations
Cross-sectional clinical assessment (medical history, physical
examination, variant classification and (if consented) photography) was
performed by the treating physician to complete a detailed chart of
phenotypic features. If available, radiologic, and cardiac analysis
outcomes were collected from the medical file. All data were entered in
a pseudo-anonymized digital database. The descriptive data were analyzed
and the results are presented in the manuscript text and Table
1.