Bone Abstracts

Introduction: Heterotopic ossification (OH) is a rare condition characterized by the presence of extra-skeletal ossification; in most cases OH is due to the inactivation of the gene of guanine nucleotide-binding protein alpha-stimulating activity polypeptide (GNAS). In some cases they remain confined to skin and subcutaneus tissues (osteoma cutis, Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism type 1a and c (PHP1a/c), and pseudopseudohypothyroidism (PPHP)),...

Background: Geleophysic dysplasia is a rare genetic bone disorder characterized by severe short stature, short hands and feet, characteristic facial features, limited joint mobility, thick skin, progressive cardiac valvular disorders and sometimes upper respiratory stenosis. Diagnosis of this disorder is based on clinical and radiographic criteria. Until now only 60 cases have been reported in the literature.Case report: One-month-old male baby was initi...

Background: Cherubism is a rare autosomal dominant bone disease characterized by bilateral painless enlargement of the jaws, that typically first appear at the age of 2–7 years. In this condition the affected bone is replaced with fibrous tissue, giving the patient a cherubic appearance.Until now only 300 cases have been reported in the literature.Case report: A caucasian 4-year-old male child came to our Pediatric Clinic comp...

Background: Gorham Stout syndrome, also called disseminated lymphangiomatosis, is a rare disease of unknown etiology and pathogenesis. This syndrome is characterized by an abnormal proliferation of thin walled capillaries and small lymphatic vessels that results in the massive osteolysis of adjacent bone. Surrounding soft tissues such as muscle, connective tissue, and viscera may also be affected. Chylothorax occurs secondary to direct involvement of the pleural cavity or the ...

Background: Idiopathic infantile hypercalcemia (IIH) is a rare cause of infantile hypercalcemia characterized by failure to thrive, vomiting, dehydration, and nephrocalcinosis. This condition has recently been associated with mutations in the CYP24A1 gene, which encodes 25-hydroxyvitamin D3 24-hydroxylase, the key enzyme of 1,25-dihydroxyvitamin D3 degradation. Until now, only 13 cases genetically tested for IIH have been reported in the literature.Case ...

Background: Osteogenesis Imperfecta is commonly due to dominant mutations in type I collagen genes, COL1A1 and COL1A2. Recessive forms, which are rarer, are caused instead by mutations in various genes coding for proteins involved in collagen post-translational modifications, folding and secretion. A novel disease locus, SERPINF1, coding for pigment-epithelium-derived-factor (PEDF), a likely key factor in bone deposition and remodelling, has been fou...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types I–V) with autosomal dominant inheritance and seven rarer forms (OI types VI–XII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...

Achondroplasia is the commonest form of dwarfism. Key features in infancy impacting positioning are rhizomelia, spinal deformities and large head size. Both standard high chairs and specialized adaptive seating are currently inadequate to meet the needs of these infants. This is due to their anatomical limitations and the guidance for supportive positioning in this group of children, which recommend that a flat, elongated spine is optimal, avoiding a ‘C shape’, as is...

Burosumab, a monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We aimed to explore the effects of burosumab in children with XLH in a clinical setting, considering: a) Biochemistry b) Growth c) Lower limb deformity (LLD) d) Radiology e) Motor function<p class="abstext"...

Objectives: • To establish the child and family experience of attending multi-disciplinary clinics within the rare bone disease service at Evelina London Children’s Hospital.• To gain an understanding of the daily challenges the children, young people and families face.• To understand how the tertiary multi-disciplinary team may support the child, young person and family.<p class="ab...