Familial hypophosphatemic rickets

Case contributed by Varun Babu
Diagnosis certain

Presentation

Presented with features of hepatitis and was subjected to an ultrasound abdomen. Significant family history of 'Familial Hypophosphatemia' was obtained and the previous Xray images were reviewed.

Patient Data

Age: 8 years
Gender: Male

Skeletal survey

x-ray

Growth plate widening with metaphyseal flaying and fraying, bowing of lower limb long bones, rachitic rosary ribs, coxa vara 

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