Presentation
Patient originally presented at age 1 year with cough where incidental osteopenia and periosteal reaction was noted on chest radiograph suggesting rickets, followed by spine radiograph. Plain films were performed over the following years for wrist and knee pain. It was at this point when the correct diagnosis was suggested. Genetic analysis confirmed the diagnosis. Subsequent CT head was performed for followup.
Patient Data
| Age: | 2-5 years |
|---|---|
| Gender: | Male |