wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, 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.
MONDO:0015877
obsolete malformative syndrome with dentinogenesis imperfecta (obsolete MONDO:0015877)
excluded_subClassOf
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0002081
musculoskeletal system disorder
is_a
MONDO:0003847
hereditary disease
is_a
Suarez-Stickler syndrome
exact
cortical defects wormian bones and dentinogenesis imperfecta
related