ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATION
Osteogenesis imperfecta (OI) is a group of rare congenital conditions characterized mainly by bone brittleness secondary to mutations in the genes encoding collagen. The medical history together with a clinical examination in detail of the fractures is highly important in directing the diagnosis t...
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| Format: | Article |
| Language: | English |
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Romanian Society of Oral Rehabilitation
2016-01-01
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| Series: | Romanian Journal of Oral Rehabilitation |
| Subjects: | |
| Online Access: | http://www.rjor.ro/association-of-bilateral-radioulnar-synostosis-with-osteogenesis-imperfecta-type-1-case-presentation/?lang=ro |
| _version_ | 1818345511704330240 |
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| author | Valeriu V. Lupu Mirabela Subotnicu Ancuța Ignat Gabriela Păduraru Irina Naumcieff Bogdan Ciubară Marin Burlea |
| author_facet | Valeriu V. Lupu Mirabela Subotnicu Ancuța Ignat Gabriela Păduraru Irina Naumcieff Bogdan Ciubară Marin Burlea |
| author_sort | Valeriu V. Lupu |
| collection | DOAJ |
| description | Osteogenesis imperfecta (OI) is a group of rare congenital conditions characterized mainly by bone
brittleness secondary to mutations in the genes encoding collagen. The medical history together with a
clinical examination in detail of the fractures is highly important in directing the diagnosis towards OI.
The authors present an OI case diagnosed in an 11-years old patient with a history of multiple fractures,
with bone deformations, which associates a rare congenital malformation – bilateral radioulnar synostosis.
This case needs multidisciplinary monitoring (pediatric, orthopaedic, genetic, psychologic). |
| first_indexed | 2024-12-13T17:03:32Z |
| format | Article |
| id | doaj.art-ac1d15ea2fbf42919f9020541c931f14 |
| institution | Directory Open Access Journal |
| issn | 2066-7000 2601-4661 |
| language | English |
| last_indexed | 2024-12-13T17:03:32Z |
| publishDate | 2016-01-01 |
| publisher | Romanian Society of Oral Rehabilitation |
| record_format | Article |
| series | Romanian Journal of Oral Rehabilitation |
| spelling | doaj.art-ac1d15ea2fbf42919f9020541c931f142022-12-21T23:37:45ZengRomanian Society of Oral RehabilitationRomanian Journal of Oral Rehabilitation2066-70002601-46612016-01-01745559ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATIONValeriu V. Lupu0Mirabela Subotnicu1Ancuța Ignat2Gabriela Păduraru3Irina Naumcieff4Bogdan Ciubară5Marin Burlea6Pediatrics Department, University of Medicine and Pharmacy ―Gr. T. Popa‖, Iasi, RomaniaPediatrics Department, University of Medicine and Pharmacy ―Gr. T. Popa‖, Iasi, RomaniaPediatrics Department, University of Medicine and Pharmacy ―Gr. T. Popa‖, Iasi, RomaniaPediatrics Department, University of Medicine and Pharmacy ―Gr. T. Popa‖, Iasi, RomaniaPediatrics Department, University of Medicine and Pharmacy ―Gr. T. Popa‖, Iasi, RomaniaAnatomy Department, University of Medicine and Pharmacy ―Gr. T. Popa‖, Iasi, Romania Orthopaedics Clinic, ―St. Spiridon‖ Emergency Clinical Hospital, Iasi, RomaniaPediatrics Department, University of Medicine and Pharmacy ―Gr. T. Popa‖, Iasi, RomaniaOsteogenesis imperfecta (OI) is a group of rare congenital conditions characterized mainly by bone brittleness secondary to mutations in the genes encoding collagen. The medical history together with a clinical examination in detail of the fractures is highly important in directing the diagnosis towards OI. The authors present an OI case diagnosed in an 11-years old patient with a history of multiple fractures, with bone deformations, which associates a rare congenital malformation – bilateral radioulnar synostosis. This case needs multidisciplinary monitoring (pediatric, orthopaedic, genetic, psychologic).http://www.rjor.ro/association-of-bilateral-radioulnar-synostosis-with-osteogenesis-imperfecta-type-1-case-presentation/?lang=rochildcongenital radioulnar synostosisosteogenesis imperfecta |
| spellingShingle | Valeriu V. Lupu Mirabela Subotnicu Ancuța Ignat Gabriela Păduraru Irina Naumcieff Bogdan Ciubară Marin Burlea ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATION Romanian Journal of Oral Rehabilitation child congenital radioulnar synostosis osteogenesis imperfecta |
| title | ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATION |
| title_full | ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATION |
| title_fullStr | ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATION |
| title_full_unstemmed | ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATION |
| title_short | ASSOCIATION OF BILATERAL RADIOULNAR SYNOSTOSIS WITH OSTEOGENESIS IMPERFECTA TYPE 1 – CASE PRESENTATION |
| title_sort | association of bilateral radioulnar synostosis with osteogenesis imperfecta type 1 case presentation |
| topic | child congenital radioulnar synostosis osteogenesis imperfecta |
| url | http://www.rjor.ro/association-of-bilateral-radioulnar-synostosis-with-osteogenesis-imperfecta-type-1-case-presentation/?lang=ro |
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