Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor

Figure 1

(a) Radiograph of the knees at initial presentation. AP radiograph of both knees. There is widening of the physes above the knee with splaying and fraying of the metaphyses. No fracture or dislocation is seen. Bones appear demineralized. Impression: findings compatible with rickets. The blue arrow points at the fraying at the end of the bones

(b) Radiograph of the knee after RX at the age of 3 years. AP radiograph of the right knee. Healed rickets. Bones appear demineralized. No fractures or dislocation is seen. The blue arrow points at the fraying at the end of the bones