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Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Disease definition
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.
ORPHA:166277
Classification level: DisorderA summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016) Polski (2016, pdf)
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