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A report of two homozygous twin girls affected by X-linked hypophosphatemic rickets (XLH). They were examined due to short stature and genu varum of both tibias. They were treated with calcitriol and Joulie’s solution, after which it was observed how serum PTH and phosphaturia decreased and phosphatemia increased. They underwent a tibial osteotomy (by means of the insertion of Kirchner needles) at 7.7 years of age for correction of genu varum and a normal consolidation was reached one month later. Nonetheless height was percentile<1 after menarche, so both sisters asked for bone lengthening. Because of this, at 15 years of age femoral distraction was performed, but no bone callus was observed 14 months later. Consequently they were treated with subcutaneous growth hormone (GH), demonstrating bone callus at 6 months. Finally, the external fixators were removed due to ossification in the lengthened segments having been achieved.
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This page is a summary of: Beneficial effects of growth hormone therapy for ossification defects after bone distraction in X linked hypophosphataemic rickets, BMJ Case Reports, August 2014, BMJ,
DOI: 10.1136/bcr-2013-203069.
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