Case: A 3-year-old-girl born to non-consanguineous parents at term with an uncomplicated perinatal period presented with progressive walking difficulty since she was 18 months old. She was observed to walk with a lordotic gait and frequent falls. Examination revealed: Short stature (81.6 cm, ≤3 z-score) Frontal bossing Flat nasal bridge Wrist widening Short neck Scoliosis Genu valgum and spastic paraparesis (Cover image) Her head circumference, intellect, vision, and hearing were normal, and there was no bladder and bowel involvement.
However, she received vitamin D supplements multiple times for suspected vitamin D-resistant rickets given wrist widening and genu valgum deformities. Diagnosis: (Images a-f) (a)- X-ray skull and cervical spine displaying widened and slant sella; flat cervical vertebrae with normal disc height (b)- Skeletal X-rays showing generalized osteopenia, anteriorly…
