Bone Abstracts

Background: X linked hypophosphataemic rickets is the commonest cause of renal phosphate wasting, however sporadic cases may warrant additional investigations to exclude less common causes, as exemplified by our case.Presenting problem: A 3 year 7 month boy was referred for assessment and ongoing management of rickets and short stature (height less than 1st %.) He originally presented with leg bowing and waddling gait from the age of 12 months...

Background: Addressing the needs of a child with Severe, Complex or Atypical Osteogenesis Imperfecta (SCAOI) requires a full MDT approach to enable the child to access their environment and meet their true potential. MDT input is essential in ensuring the delivery of medicine, participation in meaningful activity and supporting of the functioning of the child and family in complex systems.Presenting problem: Osteogenesis Imperfecta (OI) impacts upon all ...

Objectives: Optic neuropathy (ON) is a critical complication of fibrous dysplasia (FD). Early surgical decompression can prevent blindness; however, prophylactic intervention may cause blindness from intra-operative nerve damage. There is therefore a critical need to develop diagnostic tests for accurate and early detection of ON in patients with FD. Currently used methodologies, including radiographic evaluation of optic canal size and optic nerve length, are suboptimal and c...

Introduction: Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder characterized by bone fragility. OI type V, with autosomal dominant inheritance, is characterized by ossification of the forearm interosseus membrane, radiodense metaphyseal bands, propensity for hyperplastic callus formation, and mesh-like lamellation on bone histology. Type V OI probands are reported to have white sclerae and normal teeth. Recent reports identified the cause of type V OI as a ...

Fibrous dysplasia (FD) is a benign skeletal disease caused by somatic activating mutations of Gsα leading to formation of expansile fibroosseous lesions. These may occur in isolation or in association with McCune-Albright syndrome (MAS), characterized by skin pigmentation and hyperfunctioning endocrinopathies, including growth hormone (GH) excess. FD in the craniofacial skeleton may result in significant morbidity including facial asymmetry, vision and hearing ...

X-linked Hypophosphatemia (XLH), the most common heritable form of rickets, is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Affected children present with hypophosphatemia resulting in rickets, bowing of the legs and short stature. Limited information is available about the disease burden in children with XLH...

Objectives: Fibrous dysplasia is a rare bone and endocrine disorder resulting from somatic activating mutations in GNAS. In the skeleton, proliferation of undifferentiated stromal cells results in osseous lesions that are prone to deformity, fracture, and pain. Lesions may affect one bone or many, and may occur in isolation or in association with hyperfunctioning endocrinopathies, termed McCune-Albright syndrome (MAS). Scoliosis is a potentially serious, even lethal c...

Objective: We constructed height growth curves for children with XLH from birth to early adolescence, a majority of whom received conventional therapy consisting of multiple daily doses of oral phosphate and active vitamin D.Methods: Growth data from four clinical studies were pooled to construct the growth curves. UX023-CL002 was an observational, retrospective chart review of 103 children with XLH, 1–14 years of age. Pre-treatment data were collec...

Background: Biochemical and haematological testing is recommended in the United Kingdom when non-accidental injury is suspected. We examined the associations of test results with radiologically-confirmed fracture(s), and between test results, in a retrospective observational cohort.Methods: Infants up to age two years presenting with suspected non-accidental injury, without clinically-apparent bone disease, and where a skeletal survey was undertaken duri...

Background: ‘Play Plans’ are now being routinely used at the NHS England Sheffield Severe, Complex and Atypical Osteogenesis Imperfecta Service (SCAOI) as an intervention designed to enhance early development. These plans are MDT formulated and encompass carefully targeted activities designed to meet the child’s needs at their exact stages of development across five domains; Cognition, Social & Emotional Development, Motor, Adaptive Skills and Communication ...