PMC5974686_01
A clinical photograph of the patient's feet demonstrating a wide space between the first and second toes (sandal gap) (a). A lateral view radiograph of the right knee demonstrating small patella and loss of bony protrusion of the tibial tuberosity (arrow) (b). An anteroposterior view radiograph of the pelvis revealing elongated femoral necks associated with hypoplasia of the lesser trochanters (c). A computed tomography image of the right knee showing a lateral shift of her small patella. The TT-TG distance was 22 mm (double arrow) (d).
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F1
Flatfeet and sandal gaps were apparent (Fig. 1a). Plain radiographs revealed bilateral small patella, hypoplasia of the tibial tuberosity (Fig. 1b), and elongated femoral necks with hypoplastic lesser trochanters (Fig. 1c). Computed tomography images of the right knee revealed a patellar subluxation associated with hypoplasia of the femoral trochlea groove, where the tubercle-trochlear groove (TT-TG) distance was 22 mm (Fig. 1d).
Direct sequencing ofthe TBX4 gene in the patient and the sister (a). The data ofthe parents are not shown. A novel heterozygous frameshift mutation in exon 1, which was also demonstrated in her father, predicted an amino acid change from leucine to proline at position 39 and premature stop codon at the downstream of 35 amino acids. Pedigree ofthe kindred including this patient (b). Blackened symbols denote individuals with a mutation in the TBX4 gene, and whitened symbols denote individuals without mutation.
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F2
A novel heterozygous frameshift mutation (p.L39PfsX35) in exon 1 of the TBX4 gene, was found in the present case (Fig. 2a). Analyses of the parents and sister revealed that the TBX4 variant was derived from her father, who had neither medical history of skeletal dysplasia nor restricted activities of daily living (Fig. 2b).
Pre-operative (a) and post-operative (b) axial radiographs of the right knee demonstrating a successful reduction with 10 mm of medial shift at 1 year following surgery.
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F3
No recurrent pain or instability have been reported and maintained reduction of the patella has been radiographically confirmed at one year following surgery (Fig. 3a, Fig. 3b).