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Some 770 entities were delineated associated with 552 genes. From these entities, over 40 genes resulting in distinct forms of Osteogenesis Imperfecta (OI) and Bone Fragility and\/or Familial Osteoporosis were identified. To assist clinicians and lay stake holders and bring the considerable body of knowledge of the matrix biology and genomics to people with OI as well as to clinicians and scientists, a dyadic nosology has been recommended. This combines a genomic co-descriptor with a phenotypic naming based on the widely used Sillence nosology for the OI syndromes and the many other syndromes characterized in part by bone fragility.<\/jats:p>\n                  <jats:p>This review recapitulates and explains the evolution from the simple Congenita and Tarda subclassification of OI in the 1970 nosology, which was replaced by the Sillence types I\u2013IV nosology which was again replaced in 2009 with 5 clinical groups, type 1 to 5. Qualitative and quantitative defects in type I collagen polypeptides were postulated to account for the genetic heterogeneity in OI for nearly 30\u00a0years, when OI type 5, a non-collagen disorder was recognized. Advances in matrix biology and genomics since that time have confirmed a surprising complexity both in transcriptional as well as post-translational mechanisms of collagens as well as in the many mechanisms of calcified tissue homeostasis and integrity.<\/jats:p>","DOI":"10.1007\/s00223-024-01248-7","type":"journal-article","created":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T16:28:26Z","timestamp":1719592106000},"page":"873-890","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024"],"prefix":"10.1007","volume":"115","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5638-2998","authenticated-orcid":false,"given":"David Owen","family":"Sillence","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,28]]},"reference":[{"key":"1248_CR1","first-page":"455","volume":"13","author":"P Maroteaux","year":"1970","unstructured":"Maroteaux P (1970) A nomenclature for constitutional (intristic) diseases of bones [Nomenclature internationale des maladies osseuses constitutionelles]. 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