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Osteogenesis imperfecta is an inherited disorder of the connective tissue. The extreme bone fragility seen in patients suffering from osteogenesis imperfecta pose a series of problems with regard to behavior management and rendering of quality dental ...
Gupte Tejashri+4 more
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OSTEOGENESIS IMPERFECTA CONGENITA [PDF]
This condition was first described by Vorlik in 1849. Up to 1906. 140 cases had been reported. So many names have been used in the description of bone abnormalities in infants that an uncertainty remains as to just what is meant in some of these descriptions.
H. M. McCLANAHAN
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The classic Sillence classification of the four types of osteogenesis imperfecta (OI) has been extended by six additional forms in recent years. OI is a heterogeneous disease, which can exhibit a mild, moderate and severe clinical picture. The clinical variability is expressed by a different frequency of fracture incidences and bone deformity risks so ...
Morello, Roy, Esposito, Paul W.
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Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI-XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from fibroblasts.
Justin Easow Sam, Mala Dharmalingam
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Recent Developments in Osteogenesis Imperfecta [PDF]
Osteogenesis imperfecta (OI) is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some ...
Albert, Carolyne+3 more
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Summary:. Osteogenesis imperfecta is a group of genetic disorders affecting skeletal and connective tissue that commonly presents with a history of multiple fractures.
Mac Kenzie J. Reece, DO, MS+3 more
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Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. [PDF]
PurposeOsteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.MethodsUsing data from the Linked ...
A Lund+56 more
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Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: outcomes and pitfalls in relation to bone mineral density [PDF]
The purpose of this study is to compare the results of 2 techniques, tension band wiring (TBW) and fixation with screws, in olecranon fractures in children affected with osteogenesis imperfecta (OI) type I.
D'Eufemia, Patrizia+7 more
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Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila+11 more
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