Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Leml...
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| Format: | Article |
| Language: | Russian |
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Vreden Russian Research Institute of Traumatology and Orthopedics
2013-09-01
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| Series: | Travmatologiâ i Ortopediâ Rossii |
| Subjects: | |
| Online Access: | https://journal.rniito.org/jour/article/view/367 |
| _version_ | 1819151712527581184 |
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| author | N. A. Kovalenko-Klychkova V. M. Kenis I. Y. Klychkova |
| author_facet | N. A. Kovalenko-Klychkova V. M. Kenis I. Y. Klychkova |
| author_sort | N. A. Kovalenko-Klychkova |
| collection | DOAJ |
| description | Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions. |
| first_indexed | 2024-12-22T14:37:45Z |
| format | Article |
| id | doaj.art-1bd8dfc69ff14f4b8137317122f025bc |
| institution | Directory Open Access Journal |
| issn | 2311-2905 2542-0933 |
| language | Russian |
| last_indexed | 2024-12-22T14:37:45Z |
| publishDate | 2013-09-01 |
| publisher | Vreden Russian Research Institute of Traumatology and Orthopedics |
| record_format | Article |
| series | Travmatologiâ i Ortopediâ Rossii |
| spelling | doaj.art-1bd8dfc69ff14f4b8137317122f025bc2022-12-21T18:22:37ZrusVreden Russian Research Institute of Traumatology and OrthopedicsTravmatologiâ i Ortopediâ Rossii2311-29052542-09332013-09-010314314710.21823/2311-2905-2013--3-143-147361Congenital malformations of hands and feet in Smith-Lemli-Opitz syndromeN. A. Kovalenko-Klychkova0V. M. Kenis1I. Y. Klychkova2Turner Scientific and Research Institute for Children’s OrthopedicsTurner Scientific and Research Institute for Children’s OrthopedicsTurner Scientific and Research Institute for Children’s OrthopedicsSmith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions.https://journal.rniito.org/jour/article/view/367синдром смита - лемли - опитцапороки развития конечностейsmith-lemli-opitz syndromelimb malformations |
| spellingShingle | N. A. Kovalenko-Klychkova V. M. Kenis I. Y. Klychkova Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome Travmatologiâ i Ortopediâ Rossii синдром смита - лемли - опитца пороки развития конечностей smith-lemli-opitz syndrome limb malformations |
| title | Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome |
| title_full | Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome |
| title_fullStr | Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome |
| title_full_unstemmed | Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome |
| title_short | Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome |
| title_sort | congenital malformations of hands and feet in smith lemli opitz syndrome |
| topic | синдром смита - лемли - опитца пороки развития конечностей smith-lemli-opitz syndrome limb malformations |
| url | https://journal.rniito.org/jour/article/view/367 |
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