Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

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Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Synonyms: Suarez-Stickler syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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