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Background: XLHR is due to mutations in the PHEX gene leading to unregulated production of FGF23, hence hypophosphatemia and decreased renal 1,25OH-vitamin D hydroxylation. Amongst other features, XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral 1,25OH-vitamin D, partially or, in some cases, fully restore the limb straightness. For severe or residual limb deformities, orthopaedic surgery may be recommended.Objectiv...

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ePoster

hrp0098p2-172 | Growth and Syndromes | ESPE2024

European Achondroplasia Forum: Are Current Outcome Measures for Achondroplasia Still Fit for Purpose in the Era of Medical Management?

Irving Melita , AlSayed Moeenaldeen , Baujat Genevieve , Ben-Omran Tawfeg , Boero Silvio , Cormier-Daire Valérie , Fauroux Brigitte , Fredwall Svein , Guillen-Navarro Encarna , Kunkel Phillip , Lampe Christian , Leiva-Gea Antonio , Maghnie Mohamad , Mohnike Klaus , Mortier Geert , Pejin Zagorka , Sessa Marco , Sousa Sérgio

Background: Achondroplasia requires lifelong multidisciplinary care. With the advent of targeted medical treatment, The European Achondroplasia Forum (EAF) reviewed existing health surveillance measures in achondroplasia to determine whether they are still relevant.Methods: An online questionnaire was used to assess health status monitoring both in routine clinical practice and in determining response to vosoritide, curr...

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ESPE Abstracts

Results of Orthopaedic Surgery in Children with X-Linked Hypophosphatemic Rickets (XLHR)

European Achondroplasia Forum: Are Current Outcome Measures for Achondroplasia Still Fit for Purpose in the Era of Medical Management?

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