An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita
Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2017-12-01
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| Series: | Türk Osteoporoz Dergisi |
| Subjects: | |
| Online Access: | http://www.turkosteoporozdergisi.org/archives/archive-detail/article-preview/nadir-bir-osteoporoz-nedeni-spondiloepifizyal-disp/17007 |
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| author | Onur Elbasan Pınar Şişman Özen Öz Gül Soner Cander Canan Ersoy |
| author_facet | Onur Elbasan Pınar Şişman Özen Öz Gül Soner Cander Canan Ersoy |
| author_sort | Onur Elbasan |
| collection | DOAJ |
| description | Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging. |
| first_indexed | 2024-04-10T12:27:55Z |
| format | Article |
| id | doaj.art-af2004091c6f4876aa1322e62f99c4d5 |
| institution | Directory Open Access Journal |
| issn | 2147-2653 |
| language | English |
| last_indexed | 2024-04-10T12:27:55Z |
| publishDate | 2017-12-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Osteoporoz Dergisi |
| spelling | doaj.art-af2004091c6f4876aa1322e62f99c4d52023-02-15T16:15:07ZengGalenos YayineviTürk Osteoporoz Dergisi2147-26532017-12-0123311511810.4274/tod.37167An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia CongenitaOnur Elbasan0Pınar Şişman1Özen Öz Gül2Soner Cander3Canan Ersoy4Uludağ Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Bursa, TürkiyeKars Harakani Devlet Hastanesi, Endokrinoloji ve Metabolizma Hastalıkları Kliniği, Kars, TürkiyeUludağ Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Endokrinoloji ve Metabolizma Hastalıkları Bilim Dalı, Bursa, TürkiyeUludağ Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Endokrinoloji ve Metabolizma Hastalıkları Bilim Dalı, Bursa, TürkiyeUludağ Üniversitesi Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Endokrinoloji ve Metabolizma Hastalıkları Bilim Dalı, Bursa, TürkiyeSkeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging.http://www.turkosteoporozdergisi.org/archives/archive-detail/article-preview/nadir-bir-osteoporoz-nedeni-spondiloepifizyal-disp/17007Osteoporosisspondyloepiphyseal dysplasiaskeletal dysplasia |
| spellingShingle | Onur Elbasan Pınar Şişman Özen Öz Gül Soner Cander Canan Ersoy An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita Türk Osteoporoz Dergisi Osteoporosis spondyloepiphyseal dysplasia skeletal dysplasia |
| title | An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita |
| title_full | An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita |
| title_fullStr | An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita |
| title_full_unstemmed | An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita |
| title_short | An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita |
| title_sort | uncommon reason of osteoporosis spondyloepiphyseal dysplasia congenita |
| topic | Osteoporosis spondyloepiphyseal dysplasia skeletal dysplasia |
| url | http://www.turkosteoporozdergisi.org/archives/archive-detail/article-preview/nadir-bir-osteoporoz-nedeni-spondiloepifizyal-disp/17007 |
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