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A 6-month-old girl of Asian origin presented with bowing of her right leg noted from a few weeks of age. There was no history suggestive of trauma to the limb. Birth history, social history, developmental history and family history were unremarkable. On examination she had bowing of her right leg (figure 1) and multiple brown skin macules. A plain radiograph showed anterolateral bowing of the right tibia with evidence of tibial dysplasia (figures 2 and 3). Her blood bone profile was normal, and her vitamin D level was 62 nmol/L.
What is the differential diagnosis for infantile tibial bowing and what are the clinical clues that aid diagnosis?
What is the most likely diagnosis in this case? How will you confirm the diagnosis?
What is the significance for future surveillance and prognosis? …
Contributors AL wrote the article, overseen by the consultants AC and AK. CM reported the radiograph.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Parental/guardian consent obtained.