PMC3012840_01
Clinical features of a campomelic dysplasia patient. (A) Pretibial skin dimple (arrow) on the left thigh. (B) Chest radiography shows a bell-shaped, narrow thoracic cage, hypoplastic scapulae and mild T-L scoliosis. (C) Radiograph of bilateral legs shows anterolateral femoral bowing and short fibulae.
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F1
Skeletal deformities included a small thoracic cage, short limbs, pretibial skin dimples on the left thigh (Fig. 1A), anterolateral femoral bowing, and clubbed feet. T-L scoliosis and hypoplastic scapulae (Fig. 1B). The pelvic and lower limbs' radiography demonstrated a bowed femur, short fibulae, and no visible talus on either side (Fig. 1C).
PMC3012840_02
DNA sequencing of the SOX9 gene. (A) Normal control. (B) Patient. A novel frameshift mutation (p.Gln458ArgfsX12) was noticed at nucleotide 1372 (circle).
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F2
Biosystems, Foster City, CA, USA). Direct automated sequencing identified a novel frameshift mutation at nucleotide 1372 in exon 3 (Fig. 2). The patient carried both mutant and normal alleles, indicating that the mutation was heterozygous. Both parents declined genetic analysis.
PMC3012840_03