Bone Abstracts

Melorheostosis together with osteopoikilosis, ostepathia striata and Buschke–Ollendorfov’s syndrom belongs to mesodermal sclerotic dysplasia. Melorheostosis is a very rare disease with an incidence of 1:1 000 000, which was firstly described by French neurologist Léri in 1922. Hyperdense bands prominent upon the outer cortex niveau are visible on X-rays of long bones diaphysis reminding flowing wax of a candle. This disease is connected with contractures of soft...

Bacground: Melorheostosis is a rare, non-familial and progressive disorder characterized by hyperostosis, of the cortical bone. Typical clinical symptoms include chronic pain, limitation of joint movement,and soft tissue ossification and hand or foot deformity. Radiographic findings are helpful in the diagnosis, these consist of irregular hyperostosis extending along the length of one side of the long bone,resembling flowing candle wax. Medications including non-steroid anti-i...

Background: A 5-month-old girl was referred to our unit after a systemic screening for hip dislocation by X-rays revealed bilateral femoral bowing. She was the first child of healthy non-consanguineous parents, and her family history was unremarkable. Her parents had a normal physical examination, and normal laboratory findings. At presentation, her height was 64.0 cm (Z-score: 0.0) with a regular height velocity. Weight was 7.4 kg (Z-score: 1.0). On physical...

Background: Meningococcal septicaemia in childhood has a high mortality rate in the acute stage, often requiring intensive care support. Survivors are well known to have long-term sequelae in the form of neuropathy, renal scarring, loss of limbs and necrotic tissue damage. We describe here a case where a survivor of this disease developed growth plate arrest and consequent severe bowing of both tibias which now require surgical correction. Relevant literature is also reviewed....

Background: X-linked hypophosphatemic rickets (XLH), the most common inherited rachitic disorder, is often misdiagnosed as nutritional rickets or physiologic bowing. Patients typically present in early childhood with progressive bowing deformities of the lower extremities and short stature, however may also develop craniosynostosis. Here we present a case of an adopted Caucasian male whose presentation of papilledema, craniosynostosis and hypophosphatemia eventually led to the...

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...

Background: Osteogenesis Imperfecta (OI) is most commonly caused by a defect in the genes which produce type 1 collagen. Features of OI include fractures, hypermobility and weakness. Severely affected children can present with deformities such as bowing of long bones and spinal curves. Mobility may be significantly impaired. The medical management of children with severe OI includes orthopaedic surgery and bisphosphonate treatment. Physiotherapy to promote function and partici...

The Rickets is a disease which disturbs normal bone formation through different methods, like vitamin D deficiency, malabsorption, chronic renal disease, metaphisary dysplasia, low phosphorus and resistant rickets.The peak age at which rickets is most prevalent is usually 3–18 months, and the characteristic clinical features of this metabolic bone disease include enlargement of the epiphyses of the long bones and rib cage, bowing of the legs, bendin...

Osteogenesis imperfecta (OI) classification has recently been broadened to include genes that primarily affect osteoblast differentiation. TMEM38B encodes TRIC-B, a ubiquitously expressed monovalent cation-specific channel protein involved in calcium release from the endoplasmic reticulum. How alterations in TMEM38B cause OI remains poorly understood and bone matrix characteristics in affected patients have not previously been described.<p class="abstext"...

Background: Hypophosphatemic Rickets is an inherited disorder characterized by defect in bone mineralization, mainly in long bones due to hypophosphatemia. The most common form is the X-linked form but other forms such as autosomal dominant hypophosphatemic rickets and tumor-induces osteomalacia are also described. Symptoms usually begin in infancy or early childhood and there is a large spectrum of abnormalities. The most severe form causes bowing of legs, bone deformities, b...