Literature DB >> 19878741

Classification of Osteogenesis Imperfecta revisited.

F S Van Dijk1, G Pals, R R Van Rijn, P G J Nikkels, J M Cobben.   

Abstract

In 1979 Sillence proposed a classification of Osteogenesis Imperfecta (OI) in OI types I, II, III and IV. In 2004 and 2007 this classification was expanded with OI types V-VIII because of distinct clinical features and/or different causative gene mutations. We propose a revised classification of OI with exclusion of OI type VII and VIII since these types have been added because of genetic criteria (autosomal recessive inheritance) while the clinical and radiological features are indistinguishable from OI types II-IV. Instead, we propose continued use of the Sillence criteria I, II-A, II-B, II-C, III and IV for clinical and radiological classification of OI with additional mentioning of the causative mutated gene to this classification. OI type V and VI are still part of this revised classification, because of the distinguishing clinical/radiological and/or histological features observed in these types. Copyright (c) 2009 Elsevier Masson SAS. All rights reserved.

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Year:  2009        PMID: 19878741     DOI: 10.1016/j.ejmg.2009.10.007

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  56 in total

Review 1.  The collagenopathies: review of clinical phenotypes and molecular correlations.

Authors:  Rebekah Jobling; Rohan D'Souza; Naomi Baker; Irene Lara-Corrales; Roberto Mendoza-Londono; Lucie Dupuis; Ravi Savarirayan; L Ala-Kokko; Peter Kannu
Journal:  Curr Rheumatol Rep       Date:  2014-01       Impact factor: 4.592

2.  Clinical utility gene card for: osteogenesis imperfecta.

Authors:  Fleur S van Dijk; Raymond Dalgleish; Fransiska Malfait; Alessandra Maugeri; Agnieszka Rusinska; Oliver Semler; Sofie Symoens; Gerard Pals
Journal:  Eur J Hum Genet       Date:  2012-09-26       Impact factor: 4.246

3.  Interdisciplinary Care Improves Functional Mobility in an Individual with Type IX Osteogenesis Imperfecta.

Authors:  Lisa C Drefus; Sandra Cassady; Cathleen L Raggio
Journal:  HSS J       Date:  2015-01-27

4.  Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.

Authors:  Muhammad Umair; Bader Alhaddad; Afzal Rafique; Abid Jan; Tobias B Haack; Elisabeth Graf; Asmat Ullah; Farooq Ahmad; Tim M Strom; Thomas Meitinger; Wasim Ahmad
Journal:  Pediatr Res       Date:  2017-07-26       Impact factor: 3.756

Review 5.  New perspectives on osteogenesis imperfecta.

Authors:  Antonella Forlino; Wayne A Cabral; Aileen M Barnes; Joan C Marini
Journal:  Nat Rev Endocrinol       Date:  2011-06-14       Impact factor: 43.330

6.  [Osteogenesis imperfecta].

Authors:  M Salzmann; C Krohn; N Berger
Journal:  Orthopade       Date:  2014-08       Impact factor: 1.087

7.  Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta.

Authors:  Taichi Kitaoka; Noriyuki Namba; Kohji Miura; Takuo Kubota; Yasuhisa Ohata; Makoto Fujiwara; Haruhiko Hirai; Takehisa Yamamoto; Keiichi Ozono
Journal:  J Bone Miner Metab       Date:  2011-02-23       Impact factor: 2.626

8.  Pregnancy outcomes in women with osteogenesis imperfecta: a retrospective cohort study.

Authors:  J Ruiter-Ligeti; N Czuzoj-Shulman; A R Spence; T Tulandi; H A Abenhaim
Journal:  J Perinatol       Date:  2016-07-21       Impact factor: 2.521

9.  A scoring system for the assessment of clinical severity in osteogenesis imperfecta.

Authors:  Mona S Aglan; Laila Hosny; Rasha El-Houssini; Sawsan Abdelhadi; Fadia Salem; Rokia A S Elbanna; Seham A Awad; Moushira E Zaki; Samia A Temtamy
Journal:  J Child Orthop       Date:  2012-02-08       Impact factor: 1.548

10.  Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

Authors:  Monica Grover; Philippe M Campeau; Caressa Dee Lietman; James T Lu; Richard A Gibbs; Alan E Schlesinger; Brendan H Lee
Journal:  J Bone Miner Res       Date:  2013-11       Impact factor: 6.741

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