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...
| Main Authors: | , , |
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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 |
| Summary: | 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. |
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| ISSN: | 2311-2905 2542-0933 |