Article
Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia.
Joint bone spine - 1 May 2016
Maman Esther, Briot Karine, Roux Christian
Abstract excerpt
We report a 51-year old woman who suffered 2 atypical subtrochanteric femoral fractures (AFFs). She had a history of several metatarsal fractures. She had a normal bone densitometry. An adult form of hypophosphatasia (HPP) was diagnosed from low serum alkaline phosphatase (ALP), and tissue nonspecific isoenzyme of ALP (TNSALP) mutation analysis revealing 2 heterozygous mutations: c.299C>T (p. T100M) and c.571G>A...
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