Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
Tóm tắt
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre‐and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors.
Từ khóa
Tài liệu tham khảo
Bailleul‐Forestier I, 2008, The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental development, EJMG, 51, 383
Battle WH, 1908, A remarkable case of diffuse cancellous osteoma of the femur, following a fracture, in which similar growths afterwards developed in connection with other bones, Proc R Soc Med, 1, 83
Bauze RV, 1975, A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty‐two patients, J Bone Joint Surg, 57, 2, 10.1302/0301-620X.57B1.2
Berfenstam R, 1956, Osteogenesis imperfecta: A survey with some results from an introductory study of the incidence of the disease in Sweden, Sven Lakartidn, 53, 2113
Caniggia A, 1958, Fragilitas ossium hereditaria tarda: Ekman‐Lobstein disease, Acta Med Scand Suppl, 340, 1
Cho TJ, 2014, Osteogenesis imperfecta: A translational approach to brittle bone disease
Eichholtz W, 1972, Electron microscopy findings on the cornea and sclera in osteogenesis imperfecta, Klin Monbl Augenheilkd, 161, 646
Munns CR, 2013, Emery and Rimoin's principles and practice of medical genetics
Peltier LF, 1981, The classic: Congenital osteomalacia. Olaus Jacob Ekman, Clin Orthop Relat Res, 3
Seedorf KS, 1949, Osteogenesis imperfecta. A study of clinical features and heredity based on 55 Danish families comprising 18 affected members
Sillence DO, 1980, Bone dysplasia. Genetic and ultrastructural aspects with reference to osteogenesis imperfecta
Smars G, 1961, Osteogenesis imperfecta in Sweden. Clinical, genetic, epidemiological and socio‐medical aspects
Spranger J, 2003, Bone dysplasias. An atlas of genetic disorders of skeletal development
Steiner RD, 2013, COL1A1/2‐Related Osteogenesis Imperfecta, Genereviews
van Dijk FS, 2011, Osteogenesis imperfecta: A review with clinical examples, Mol Syndromol, 2, 1, 10.1159/000332228
van DijkFS ZillikensMC MichaD RiesslandM MarcelisCLM de Die‐SmuldersCE MilbradtJ FrankenAA HarsevoortAJ LichtenbeltKD PruijsHE Rubio‐GozalboME ZwertbroekR MoutaouakilY EgthuijsenJ HammerschmidtM BijmanR SemeinsCM BakkerAD EvertsV Klein‐NulendJ Campos‐ObandoN HofmanA te MeermanGF VerkerkAJMH UitterlindenAG MaugeriA SistermansEA WaisfiszQ Meijers‐HeijboerH WirthB SimonMEH PalsG.2013. PLS3 mutations in X‐linked osteoporosis and fractures. Accepted for publication in N Eng J Med 369:1529–1536.