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. 2021 Sep 6;480(2):421–430. doi: 10.1097/CORR.0000000000001957

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