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Rare bone diseases and skeletal dysplasias

  1. Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 ...

    Authors: Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong and Haibo Mei

    Citation: Orphanet Journal of Rare Diseases 2019 14:221

    Content type: Research

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  2. Osteogenesis imperfecta (OI) is a rare disease leading to hereditary bone fragility. Nearly 90% of cases are caused by mutations in the collagen genes COL1A1/A2 (classical OI) leading to multiple fractures, scoli...

    Authors: Heike Hoyer-Kuhn, Mirko Rehberg, Christian Netzer, Eckhard Schoenau and Oliver Semler

    Citation: Orphanet Journal of Rare Diseases 2019 14:219

    Content type: Research

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  3. Achondroplasia is the most common form of disproportionate short stature and might affect not only the quality of life of the affected child but also that of the parents.

    Authors: Stefanie Witt, Beate Kolb, Janika Bloemeke, Klaus Mohnike, Monika Bullinger and Julia Quitmann

    Citation: Orphanet Journal of Rare Diseases 2019 14:194

    Content type: Research

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  4. Individuals diagnosed with a rare genetic disease that affects skeletal development often have physical limitations and orofacial problems that exert an impact on oral health. The aim of the present study was ...

    Authors: Heloisa Vieira Prado, Natália Cristina Ruy Carneiro, Matheus França Perazzo, Mauro Henrique Nogueira Guimarães de Abreu, Carolina de Castro Martins and Ana Cristina Borges-Oliveira

    Citation: Orphanet Journal of Rare Diseases 2019 14:145

    Content type: Research

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  5. Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues an...

    Authors: Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton…

    Citation: Orphanet Journal of Rare Diseases 2019 14:139

    Content type: Position statement

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:267

  6. Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification...

    Authors: Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Maja Di Rocco, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Barbara White, Donna R. Grogan and Frederick S. Kaplan

    Citation: Orphanet Journal of Rare Diseases 2019 14:98

    Content type: Research

    Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2019 14:113

  7. Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also...

    Authors: Maja Di Rocco, Genevieve Baujat, Marta Bertamino, Matthew Brown, Carmen L. De Cunto, Patricia L. R. Delai, Elisabeth M. W. Eekhoff, Nobuhiko Haga, Edward Hsiao, Richard Keen, Rolf Morhart, Robert J. Pignolo and Frederick S. Kaplan

    Citation: Orphanet Journal of Rare Diseases 2017 12:110

    Content type: Position statement

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  8. Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with ...

    Authors: Bas C. J. Majoor, Cornelie D. Andela, Jens Bruggemann, Michiel A. J. van de Sande, Ad A. Kaptein, Neveen A. T. Hamdy, P. D. Sander Dijkstra and Natasha M. Appelman-Dijkstra

    Citation: Orphanet Journal of Rare Diseases 2017 12:80

    Content type: Research

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  9. Sternocostoclavicular hyperostosis (SCCH; ORPHA178311) is a rare inflammatory disorder of the axial skeleton, the precise pathophysiology of which remains to be established. We addressed the potential associat...

    Authors: Pieter A. Valkema, Clare H. Luymes, Janneke E. Witteveen, Saskia le Cessie, Natasha M. Appelman-Dijkstra, Pancras C. W. Hogendoorn and Neveen A. T. Hamdy

    Citation: Orphanet Journal of Rare Diseases 2017 12:20

    Content type: Research

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  10. Pregnancies of women displaying achondroplasia are at high risk of adverse events. Early sonographic assessment of affected women can indicate an unusually long cervical length. It is the consequence of pathol...

    Authors: Alexandre J. Vivanti, Anne-Gael Cordier, Geneviève Baujat and Alexandra Benachi

    Citation: Orphanet Journal of Rare Diseases 2016 11:166

    Content type: Letter to the Editor

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  11. Ischiospinal dysostosis (ISD) is a polytopic dysostosis characterized by ischial hypoplasia, multiple segmental anomalies of the cervicothoracic spine, hypoplasia of the lumbrosacral spine and occasionally ass...

    Authors: Ekaterina Kuchinskaya, Giedre Grigelioniene, Anna Hammarsjö, Hye-Ran Lee, Lotta Högberg, Gintautas Grigelionis, Ok-Hwa Kim, Gen Nishimura and Tae-Joon Cho

    Citation: Orphanet Journal of Rare Diseases 2016 11:1

    Content type: Letter to the Editor

    Published on:

  12. A better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.

    Authors: Laura L. Tosi, Matthew E. Oetgen, Marianne K. Floor, Mary Beth Huber, Ann M. Kennelly, Robert J. McCarter, Melanie F. Rak, Barbara J. Simmonds, Melissa D. Simpson, Carole A. Tucker and Fergus E. McKiernan

    Citation: Orphanet Journal of Rare Diseases 2015 10:146

    Content type: Research

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  13. Hajdu Cheney Syndrome (HCS), Orpha 955, is a rare disease characterized by acroosteolysis, severe osteoporosis, short stature, specific craniofacial features, wormian bones, neurological symptoms, cardiovascul...

    Authors: Ernesto Canalis and Stefano Zanotti

    Citation: Orphanet Journal of Rare Diseases 2014 9:200

    Content type: Review

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