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INTERNATIONAL JOURNAL OF SCIENTIFIC DEVELOPMENT AND RESEARCH International Peer Reviewed & Refereed Journals, Open Access Journal ISSN Approved Journal No: 2455-2631 | Impact factor: 8.15 | ESTD Year: 2016 open access , Peer-reviewed, and Refereed Journals, Impact factor 8.15 |
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| Paper Title: | ALAGILLE SYNDROME : A rare type of Birth Defect- a Case Overview |
| Authors Name: | Nimmy P S , Aiswaria S Pal , Greeshma V R |
| Unique Id: | IJSDR2302079 |
| Published In: | Volume 8 Issue 2, February-2023 |
| Abstract: | Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. AGS is caused by defects in the Notch signalling pathway due to mutations in JAG1. It is inherited in an autosomal dominant pattern with a high degree of penetrance, but variable expressivity results in a wide range of clinical features. Here we report on a one and half year-old female child who presented with elevated serum alkaline phosphatase with transaminitis and coagulopathy, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup. |
| Keywords: | Alagille syndrome, Cholestasis, Bile duct paucity, JAG1, Child. |
| Cite Article: | "ALAGILLE SYNDROME : A rare type of Birth Defect- a Case Overview", International Journal of Science & Engineering Development Research (www.ijsdr.org), ISSN:2455-2631, Vol.8, Issue 2, page no.459 - 462, February-2023, Available :http://www.ijsdr.org/papers/IJSDR2302079.pdf |
| Downloads: | 000337070 |
| Publication Details: | Published Paper ID: IJSDR2302079 Registration ID:203962 Published In: Volume 8 Issue 2, February-2023 DOI (Digital Object Identifier): Page No: 459 - 462 Publisher: IJSDR | www.ijsdr.org ISSN Number: 2455-2631 |
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