Figure 1

A-Brachydactyly type E (BDE) in the proband characterized by shortened V ^th fingers, B, C-Clinical picture of BDE (shortened V ^th fingers and toes) in the proband's father, D-X-ray of the proband's hands showing shortening of the V ^th right metacarpal, bilateral shortening and broadening of the I ^st metacarpals, and bilateral shortening of the middle phalanges of V ^th fingers (skeletal abnormalities are indicated by the white arrows), E-Feet of the proband showing broad halluces and no clinically evident BDE, F-Pedigree of the presented BDE family (proband is indicated by an arrow), G-Chromatogram picture showing the c.820C > T(p.R274X) HOXD13 mutation. Wild-type HOXD13 protein sequence is presented in blue, whereas truncated protein variant is shown in red. H - Hand malformation typical for synpolydactyly (SPD) spectrum (syndactyly of fingers 3/4 with insertional polydactyly within the syndactylous web), I - Typical SPD foot malformation characterized by syndactyly of 4/5 toes, J - External rotation of 5^th toe often seen in SPD patients (SPD in patients shown in pictures H, I, J results from insertions of 7 Ala in the polyalanine tract).