Disease relevance of Bone Diseases, Developmental

• Our recent study has indicated that the cells derived from the fibrous bone dysplasia tissues in MAS patients produced increased levels of interleukin-6 (IL-6), which may be responsible for the increased bone resorption in this disease [1].
• The specific keratan sulfate effects of inhibiting osteoblast activity and toxicity towards bone, which were never tested before, suggest a role for this glycosaminoglycan in the pathogenesis of bone dysplasia in Morquio syndrome [2].
• OBJECTIVE: We investigated the MR imaging appearance of deferoxamine-induced bone dysplasia in the distal femur and patella in patients with thalassemia major [3].
• Morquio syndrome (mucopolysaccharidosis IV) presents with multiple bone dysplasia and is characterized by the inability to degrade keratan sulfate due to deficient N-acetylgalactosamine-6-sulfate sulfatase in Morquio A syndrome and deficient beta-D-galactosidase in Morquio B syndrome [2].
• Patterns of bone diseases in transfusion-dependent homozygous thalassaemia major: predominance of osteoporosis and desferrioxamine-induced bone dysplasia [4].

High impact information on Bone Diseases, Developmental

• Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare, sclerosing bone dysplasia inherited in an autosomal dominant manner [5].
• FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three major regions (i.e., extracellular, transmembrane, and intracellular) of the protein [6].
• Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by progressive skeletal overgrowth [7].
• Additional LRP5 activating mutations have been identified in a variety of sclerosing bone dysplasias, improving the diagnostic classification of these disorders [8].
• These data provide evidence that disruptions to COMP-type IX collagen interactions define a pathogenetic mechanism in a bone dysplasia family [9].

Chemical compound and disease context of Bone Diseases, Developmental

• Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein [7].
• AIM: To study the radiographic findings of desferrioxamine-induced bone dysplasia, its prevalence and relation to growth in thalassaemic patients [10].
• Eleven children received bisphosphonate therapy (pamidronate i.v. q 3 months) for fibrous bone dysplasia [11].
• The mystique of bone dysplasias is gradually vanishing [12].
• Unusual bone dysplasia featuring severe platyspondyly and vertebral "coronal cleft" in infancy, and changes of metaphyseal chondrodysplasia in childhood [13].

Biological context of Bone Diseases, Developmental

• Camurati-Engelmann disease (CED) [OMIM 131300] is an autosomal dominant sclerosing bone dysplasia recently ascribed to mutations of the transforming growth factor (TGF-beta1) gene on chromosome 19q13.1-q13 [14].
• This gene was analyzed because loss-of-function mutations in SOST cause sclerosteosis, a sclerosing bone dysplasia associated with increased bone mass due to increased bone formation [15].

Anatomical context of Bone Diseases, Developmental

• Deferoxamine-induced bone dysplasia in the distal femur and patella of pediatric patients and young adults: MR imaging appearance [3].

Gene context of Bone Diseases, Developmental

• Loss-of-function mutations in the sclerosteosis gene (SOST) cause a rare sclerosing bone dysplasia characterized by skeletal overgrowth [16].
• The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stüve-Wiedemann syndrome due to LIFR mutations, Compomelic dysplasia due to SOX9 mutations and Kyphomelic dysplasia with no known molecular bases [17].
• Gain of function of the gene PAX9 on chromosome 14 is a possible candidate for a t(14;18) patient affected with mesomelic bone dysplasia [18].
• FGF18 is thus likely an endogenous ligand of FGF receptor 3, whose mutation causes bone dysplasia in humans [19].
• This apparently new association of retinitis pigmentosa with a systemic bone dysplasia emphasises that this not uncommon clinical diagnosis has a variety of different possible causes [20].

Analytical, diagnostic and therapeutic context of Bone Diseases, Developmental

• CONCLUSION: Desferrioxamine-induced bone dysplasia is associated with height reduction and can be seen in patients receiving desferrioxamine chelation therapy at doses of less than 50 mg/kg/day [10].

References