A case report: Alagille syndrome
Alagille syndrome consists of 5 major features comprising paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis. The female patient in this report met 4 of the 5 major features except ocular abnormality. The first clinica...
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| Main Authors: | , , |
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| Format: | Case Reports |
| Language: | English |
| Published: |
2014
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| Online Access: | http://www.ncbi.nlm.nih.gov/pubmed/3502482 http://cmuir.cmu.ac.th/handle/6653943832/3317 |
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| Institution: | Chiang Mai University |
| Language: | English |
| Summary: | Alagille syndrome consists of 5 major features comprising paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis. The female patient in this report met 4 of the 5 major features except ocular abnormality. The first clinical presentations were prolonged jaundice and generalized ecchymoses. She was treated by plasma replacement and vitamin supplement, particularly vitamin K1, which produced clinical improvement. This report also reviews the literature of Alagille syndrome. |
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