musculoskeletal system disorder hereditary disease wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta https://www.malacards.org/card/cortical_defects_wormian_bones_and_dentinogenesis_imperfecta_2 https://www.malacards.org/card/wormian_bone_multiple_fractures_dentinogenesis_imperfecta_skeletal_dysplasia MONDO:0011501 Orphanet:166277 UMLS:C1858032 GARD:0010290 MESH:C565734 Suarez-Stickler syndrome MEDGEN:387969 cortical defects wormian bones and dentinogenesis imperfecta OMIM:604922 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. Suarez-Stickler syndrome