2yrs female child presented with c/o bowing of both legs from 1yr of age. No h/o consagunity or sibling death or maternal risk factors for TORCH and other congenital infections. Normal birth,immunisation and development history. Attained milestones as per age. Negative for contact with TB and family history of hemoglobinopathies. On examination vitals stable, height less than 3rd centile,pallor present huge hepatosplenomegaly, a soft systolic murmur over mitral area, no widening of wrist, no rachitic rosary present, genu varum present with no tenderness over joints,slightly protruding tongue and depressed bridge of nose,cornea clear. Child had undergone treatment for rickets for 6months with weekly doses of vit D still no improvement rather complained of increase in leg bowing and unsteady gait. The child didnot have any neurodevelopmental regression. Xray wrist had 2 carpal bones with no metaphyseal splaying and fraying. Xray AP of lower limbs also had no features suggestive of rickets. Xray chest unremarkable. ALP level of 908U/L with normal calcium and phosphate level. Hb of 7.8gm% with microcytic hypochromic blood picture, no evidence of cytopenia. VBG unremarkable. Thyroid profile awaited. What are the D/ds possible and what to do next? Kindly opine. Thanks PS:Will attach necessary pics of investigations soon.

1 1/2 year old girl with coarse facies, developmental delay, x ray bullet shaped phalanges, oar shaped ribs and thin bones. Any differentials?

10 yr old child ...came with .c/o delayed developmental mile stone and ..bluring of vision(graduallly)...approach ...and posibilities.

3 year old male child with difficulty in breathing ,abdominal distension ,corneal clouding, spinal deformity and development delay. spot diagnosis

5yr old pt, 15.8kg, 87cm came frfollow up. visited previously in september with c/o constipation. noticed coarse facies, anemia, abd distension, umblical hernia, short stature, delayed bone age. usg revealed minimal pericardial effusion. thyroid profile with TSH 750 attached pt was put on Rx, continued frm local practitioners and since then returned now. current thyroid profile with TSH 100 also attached. pt is taking 50mcg levothyroxin so far... discuss any further investigation & rx...