Table 1.
Clinical features of families with FLNB variants
Family | Individual | Variant | Clubfoot phenotype | Other phenotypes/comorbidities |
1 | II-1 | E1792del | Bilateral clubfoot | |
III-1 (proband) | E1792del | Bilateral clubfoot | ||
IV-1 | E1792del | Bilateral clubfoot | ||
IV-2 | Not genotyped | Bilateral clubfoot | ||
2 | I-1 | Not genotyped | None | Toe syndactyly |
II-1 | Not genotyped | None | Thumb hypermobility | |
III-1 | E1792del | Bilateral clubfoot | Mild scoliosis and flat thumbs with wide nailbeds | |
III-2 | Not genotyped | None | Toe syndactyly | |
IV-1 | E1792del | None | Curly or overlapping toes, flat feet, and thumb hypermobility | |
IV-2 (proband) | E1792del | Bilateral clubfoot | ||
3 | I-1 | Not genotyped | Bilateral clubfoot | |
II-1 (proband) | E1792del | Left clubfoot | ||
II-2 | Not genotyped | Right clubfoot | ||
4 | I-1 | G2397D | Bilateral clubfoot | |
III-1 (proband) | G2397D | Bilateral clubfoot | Elbow hypermobility |