Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas
Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2014/623926 |
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| _version_ | 1832554744420237312 |
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| author | Mehmet Demirdöven Hamza Yazgan Mevlit Korkmaz Arzu Gebeşçe Alparslan Tonbul |
| author_facet | Mehmet Demirdöven Hamza Yazgan Mevlit Korkmaz Arzu Gebeşçe Alparslan Tonbul |
| author_sort | Mehmet Demirdöven |
| collection | DOAJ |
| description | Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality. |
| format | Article |
| id | doaj-art-fdbbf53daea2446d8316fa98d93db50b |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-fdbbf53daea2446d8316fa98d93db50b2025-02-03T05:50:42ZengWileyCase Reports in Pediatrics2090-68032090-68112014-01-01201410.1155/2014/623926623926Smith-Lemli-Opitz Syndrome: A Case with Annular PancreasMehmet Demirdöven0Hamza Yazgan1Mevlit Korkmaz2Arzu Gebeşçe3Alparslan Tonbul4Department Of Pediatrics, School Of Medicine, Fatih University, TurkeyDepartment Of Pediatrics, School Of Medicine, Fatih University, TurkeyDepartment Of Pediatrics Surgery, School Of Medicine, Fatih University, TurkeyDepartment Of Pediatrics, School Of Medicine, Fatih University, TurkeyDepartment Of Pediatrics, School Of Medicine, Fatih University, TurkeySmith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality.http://dx.doi.org/10.1155/2014/623926 |
| spellingShingle | Mehmet Demirdöven Hamza Yazgan Mevlit Korkmaz Arzu Gebeşçe Alparslan Tonbul Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas Case Reports in Pediatrics |
| title | Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas |
| title_full | Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas |
| title_fullStr | Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas |
| title_full_unstemmed | Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas |
| title_short | Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas |
| title_sort | smith lemli opitz syndrome a case with annular pancreas |
| url | http://dx.doi.org/10.1155/2014/623926 |
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