Abstract Fibrous Dysplasia/McCune Albright syndrome (FD/MAS) represents a wide
spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The …

Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by
autosomal recessive mutations or a single dominant-negative mutation in the gene …

Abstract The ISCD 2007 Pediatric Official Positions define osteoporosis in children on the
basis of fracture history and low bone density, adjusted as appropriate for age, gender, and …

Background Children with osteogenesis imperfecta are often treated with intravenous
bisphosphonates. We aimed to assess the safety and efficacy of risedronate, an orally …

Background There are no effective therapies for achondroplasia. An open-label study
suggested that vosoritide administration might increase growth velocity in children with …

The increasing use of dual‐energy X‐ray absorptiometry (DXA) in children has led to the
need for robust reference data for interpretation of scans in daily clinical practice. Such data …

Purpose Achondroplasia is caused by pathogenic variants in the fibroblast growth factor
receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C …

Because of the lack of well designed studies on vitamin D and health, 1 the British Paediatric
and Adolescent Bone Group has produced a position statement based on current expert …

International Journal of Paediatric Dentistry 2013; 23: 153–159 Background.
Hypophosphatasia (HP) is characterized by defective mineralization of bone and teeth …

Context Osteogenesis imperfecta (OI) is associated with reduced muscle size, dynamic
muscle function, and mobility. Objective To assess the effect of whole body vibration (WBV) …