ABSTRACTINTRODUCTIONANDIMPORTANCE: Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons. CASE PRESENTATION: We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth. CLINICAL DISCUSSION: A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the phosphate regulating gene on PHEX, that causes reduced mineralization of bones and teeth. CONCLUSION: Diagnostic delay in this patient resulted in increased disabilities affecting her mobility and lif estyle.
ABSTRACTINTRODUCTIONANDIMPORTANCE: Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons. CASE PRESENTATION: We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth. CLINICAL DISCUSSION: A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the phosphate regulating gene on PHEX, that causes reduced mineralization of bones and teeth. CONCLUSION: Diagnostic delay in this patient resulted in increased disabilities affecting her mobility and lif estyle.
Authors: L Masi; D Agnusdei; J Bilezikian; D Chappard; R Chapurlat; L Cianferotti; J-P Devolgelaer; A El Maghraoui; S Ferrari; M K Javaid; J-M Kaufman; U A Liberman; G Lyritis; P Miller; N Napoli; E Roldan; S Papapoulos; N B Watts; M L Brandi Journal: Osteoporos Int Date: 2015-06-13 Impact factor: 4.507
Authors: Erdem Durmaz; Minjing Zou; Roua A Al-Rijjal; Essa Y Baitei; Sumaya Hammami; Iffet Bircan; Sema Akçurin; Brian Meyer; Yufei Shi Journal: Bone Date: 2012-10-16 Impact factor: 4.398
Authors: Joel J Gagnier; Gunver Kienle; Douglas G Altman; David Moher; Harold Sox; David Riley Journal: Headache Date: 2013 Nov-Dec Impact factor: 5.887