Pseudo-Vitamin D-Deficiency Rickets

Pseudo-vitamin D-deficiency rickets is characterized by failure to thrive, muscle weakness, hypocalcemia and the bony changes of rickets including short stature, osteomalacia, leg bowing, fractures and dental defects. Patients may present with seizures and tetany. The skeletal changes are severe and may resemble those found in skeletal dysplasias. Affected patients are responsive to treatment with Vitamin D.