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Fibrous dysplasia results from aberrant development of bone leading to single or multiple skeletal defects.
Fgf23 KO mice have a maximum lifespan of 13 weeks, are hyperphosphatemic and have multiple skeletal defects.
Mutations of the TGF-β superfamily genes and their specific receptors in mice have led to multiple skeletal defects [ 101, 102].
Other associated features include multiple skeletal defects (chest and spine deformities), webbed/short neck, variable cognitive deficits, cryptorchidism, lymphatic dysplasia, bleeding diathesis, and, rarely, predisposition to certain hematologic malignancies during childhood.
Interestingly, these mice showed severe abnormalities of chondrocyte and osteoblast differentiation and developed multiple skeletal defects that are not observed in the adult induced SHP-2-deficient model, including growth retardation, limb and chest skeletal abnormalities, and calvarial defects.
Similar(54)
Importantly, we showed that Cbfβ was expressed throughout the skeleton during both embryonic and postnatal development, which explains the multiple-skeletal defects observed in the mutant mice.
Azathioprine injected intraperitoneally in doses equivalent to 4 to 13 times the therapeutic human dose caused skeletal defects and multiple malformations in mice and rabbits exposed during gestation [ 125].
Animal studies have shown that transgenic mice overexpressing noggin suffered from long bone fractures and osteopenia [ 21], whereas the knockout noggin mouse was lethal with severe skeletal defects, such as multiple joint fusions [ 33].
Three patients suffered from multiple skeletal injuries.
Various techniques have been advocated for reconstruction of skeletal defects after limb salvage.
Engineered cell-based constructs are an appealing strategy to treat large skeletal defects.
Related(20)
various skeletal defects
multiple skeletal abnormalities
multiple heart defects
multiple skeletal features
multiple skeletal complications
multiple skeletal elements
multiple skeletal metastases
multiple cartilage defects
multiple birth defects
multiple skeletal muscles
multiple skeletal sites
multiple skeletal degrees
multiple skeletal deformities
multiple organ defects
multiple reduction defects
multiple skeletal remains
multiple methylation defects
multiple skeletal injuries
multiple health defects
multiple skeletal lesions
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