Developmental Bone Diseases (Bone Dysplasia)

06/01/1998 - "Previous genetic linkage studies have mapped the rare Paget's disease-like bone dysplasia familial expansile osteolysis (FEO) to chromosome 18q21-22, and recent work has shown evidence of linkage between this locus and Paget's disease in one family. "
01/01/2007 - "Familial expansile osteolysis (FEO) is a rare disorder causing bone dysplasia. "
03/01/2001 - "In some families, the disease has been found to be linked to a susceptibility locus on chromosome 18q21-22, which also contains the gene responsible for familial expansile osteolysis (FEO)--a rare bone dysplasia with many similarities to Paget's disease. "
09/01/1999 - "The dental findings are presented of a mother and daughter who suffer from an as yet unclassified bone dysplasia that shows features of both hereditary hyperphosphatasia and familial expansile osteolysis. "
02/01/1994 - "Familial expansile osteolysis is a rare bone dysplasia which is transmitted as an autosomal dominant trait in a large kindred in Northern Ireland. "

07/01/1980 - "It is suggested that these changes are in relationship to abnormal collagen metabolism and that CHF is not only a bone dysplasia but a more generalized condition with variable extraskeletal manifestations."
02/01/2015 - "Osteogenesis imperfecta (OI) is a heritable collagen-related bone dysplasia, characterized by brittle bones with increased fracture risk that presents most severely in children. "
08/01/2014 - "Osteogenesis imperfecta (OI) is a heritable collagen-related bone dysplasia, characterized by brittle bones with increased fracture risk. "
07/01/2012 - "Classic osteogenesis imperfecta (OI) is a prototype for heritable bone dysplasias: it has dominant genetic transmission and is caused by mutations in the genes coding for collagen I, the most abundant protein in bone. "
01/01/2001 - "Newly developed genetic analysis of bone dysplasia is an important subject, and this review focuses on collagen abnormalities, systemic disorders associated with neoplasms and receptor disorders. "

03/01/2009 - "In the current study, we have identified two unrelated individuals who presented at birth with a sclerosing bone dysplasia with features very similar to those in Raine syndrome but who survived infancy and are now aged 8 and 11 years, respectively. "
06/25/2013 - "Mutations in Fam20C cause Raine syndrome, an osteosclerotic bone dysplasia. "
06/01/2012 - "Consequently, mutations in Fam20C cause an osteosclerotic bone dysplasia in humans known as Raine syndrome. "
03/01/2009 - "Raine syndrome is an osteosclerotic bone dysplasia, which has proved to be lethal within the first few weeks of life in all the reported cases to date. "
11/01/1998 - "We report the seventh known patient with Raine syndrome, a recently recognised, lethal sclerosing bone dysplasia associated with severe craniofacial dysmorphism and intracranial calcification in whom the CT findings are correlated with the gross and microscopic abnormalities found in the brain at autopsy."

08/01/2000 - "To study the radiographic findings of desferrioxamine-induced bone dysplasia, its prevalence and relation to growth in thalassaemic patients. "
09/01/2013 - "A wider spectrum of deferoxamine-induced bone-dysplasia-like changes was recognized despite delayed onset and small doses of therapy. "
07/01/2002 - "With provision of the modern regime of regular transfusion and desferrioxamine chelation, desferrioxamine-induced bone dysplasia was a much more frequently detected radiographic abnormality in beta-thalassaemia major than radiographic features owing to medullary expansion. "
07/01/2002 - "Sixteen patients had radiographic evidence of desferrioxamine-induced bone dysplasia. "
12/01/2000 - "Deferoxamine-induced bone dysplasia in the distal femur and patella is represented by a spectrum of morphologic changes in the epiphysis, physis, metaphysis, and metadiaphysis on MR imaging."

05/01/2014 - "Classical osteogenesis imperfecta (OI), a dominantly inherited bone dysplasia, is characterized in its more severe forms by synthesis of structurally abnormal type I collagen, which exerts a negative effect on extracellular matrix. "
01/01/1987 - "A survey study of growth cartilage abnormalities in bovine bone dysplasias revealed that a disorder in Holstein cattle called bulldog calf closely resembles human achondrogenesis Type II. Substantial amounts of Type I collagen and other non Type II collagens were detected in the bulldog cartilage which was comprised primarily of extensive vascular canals and cells having the characteristics of hypertrophic and degenerative chondrocytes normally found in the growth plate. "
01/15/2010 - "Null mutations in cartilage-associated protein (CRTAP) and prolyl 3-hydroxylase 1 (P3H1/LEPRE1) cause types VII and VIII OI, respectively, two novel recessive forms of osteogenesis imperfecta (OI) with severe to lethal bone dysplasia and overmodification of the type I collagen helical region. "

07/01/1977 - "Calcitonin treatment in hereditary bone dysplasia with hyperphosphatasemia: a radiographic and histologic study of bone."
01/01/1979 - "It is concluded that familial bone dysplasia is primarily a disease of osteocytes and that osteocytic activity is influenced by calcitonin."
07/01/1977 - "Two children with bone dysplasia with hyperphosphatasemia (juvenile Paget's disease) were treated with synthetic human calcitonin. "
01/01/1976 - "Four cases of familial bone dysplasia with hyperphosphatasaemia were treated with synthetic human calcitonin. "
01/01/1976 - "Hereditary bone dysplasia with hyperphosphatasaemia: response to synthetic human calcitonin."

02/01/1992 - "We present a detailed study of a 59-year-old white woman with mixed sclerosing bone dystrophy: the rare occurrence of two or more sclerosing bone dysplasias in a single subject. "
01/01/1981 - "We present clinical, laboratory, radiologic, genetic, and pathologic findings in a 49-year-old man with mixed-sclerosing-bone-dystrophy (MSBD), review the six cases previously reported as "MSBD", and examine the nosology of this rare bone dysplasia. "
03/01/1986 - "We present a detailed metabolic investigation and 42-year radiological follow-up of a 52-year-old man with mixed-sclerosing-bone-dystrophy, the rare occurrence of two or more distinct patterns of sclerosing-bone-dysplasia (e.g., osteopathia striata, osteopoikilosis, melorheostosis) in a single subject. "

01/01/2006 - "It is now clear that normal skeletal stromal cells without mutation of the Gsalpha protein are necessary for the presence of bone dysplasia and that exaggerated production of interleukin-6 by fibrous bone cells with mutation of the Gsalpha protein is linked to the increased number of osteoclasts in bone tissues. "
07/01/1998 - "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. "

01/01/1997 - "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."
03/01/2013 - "The aims of this study were to assess severity of bone dysplasia among four MPS mouse models (MPS I, IIIA, IVA and VII), to determine the relationship between severity of bone dysplasia and serum keratan sulfate (KS) and heparan sulfate (HS) levels in those models, and to explore the mechanism of KS elevation in MPS I, IIIA, and VII mouse models. "
01/01/1997 - "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. "

07/01/1986 - "We describe a new type of bone dysplasia, the "acromicric dysplasia," based on the study of six patients. "
11/01/2001 - "Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. "

05/01/2011 - "Distraction osteogenesis should be considered as the primary reconstructive method for maxillofacial deformities in patients with sclerosing bone dysplasias, since this is the second reported case treated successfully with rigid external distraction."

08/01/2000 - "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. "
07/01/2001 - "The left knees of 32 patients with thalassemia who were receiving regular blood transfusions and chelation therapy were studied with sonography for signs of deferoxamine-induced bone dysplasia. "

04/01/2000 - "Data extracted from the individual patient charts included: age, sex, chief complaint, number and location of rib fractures, associated injuries, birth history, history of cardiopulmonary resuscitation, and any evidence of bone dysplasia. "

07/01/2010 - "Solid spinal fusion was achieved in all three cases despite underlying bone dysplasia (Hurler's disease), instability or bony substance loss. "

01/01/1992 - "Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis."