Bone Abstracts

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of hypophosphatemia.Aim: The aim of this prospective study was to describe and analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in a series of children with XLHR.Patients and methods: Seventeen children (13 girls, 4 boys, mean age 7.3 years) followed for XLHR at the French national reference center for rare diseases o...

see PP185....

FGFR3 activating mutations are responsible for achondroplasia (ACH), the most common form of dwarfism. ACH clinical features include short stature, midface hypoplasia, frontal bossing and prognathism and both endochondral and membranous ossifications are disturbed. It is unknown if abnormal mandibles are present in ACH. To date, it is believed that primary (Meckel’s) and secondary (angular and condylar) cartilages play important roles in determining the final shape and po...

Background and aim: Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of X-linked hypophosphatemia (XLH). Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: 39 children with XLH were switched from conventional therapy to burosumab (starting dose 0.4 mg/kg), because of following indications: non-responder to conventional ther...