Familial Hypophosphatemic Rickets - A Case Report and Review of Literature

Familial Hypophosphatemic Rickets - A Case Report and Review of Literature

Published Jan 2010

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It can be stated that XLH must be considered as a differential diagnosis with any form of rickets, who has positive family history, presence of bowing of legs, knock knee, coxa vara, genu varum (rather than Harrison’s sulcus, rachitic rosary or myopathy), hypophosphatemia with corresponding phosphaturia and normal serum PTH level. However, renal, hepatic or other related causes should also be excluded as differential diagnosis.

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