Presentation
Developmental delay and intellectual disability.
Patient Data
Radiograph of the left hand shows significant growth delay according to Greulich & Pyle method.
Additionally, fragmented and stippled epiphyses are evident in the proximal of both femurs and visualized proximal right humeral epiphysis.
Case Discussion
This case demonstrates stippled epiphysis which refers to abnormal punctate, speckled, or dot-like calcifications in one or more epiphysis. The main differential diagnoses include chondrodysplasia punctata and congenital hypothyroidism. However similar findings may be seen in fetal warfarin syndrome and fetal alcohol syndrome.
Further evaluation and lab data of this patient with developmental delay confirmed neglected/untreated congenital hypothyroidism.
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