A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report

@inproceedings{Pati2016A1C,
  title={A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report},
  author={Girish Kumar Pati and Ayaskanta Singh and Preetam Nath and Jimmy Narayan and Pradeep Kumar Padhi and Prasanta Kumar Parida and Kaumudee Pattnaik and Chittaranjan Panda and Shivaram Prasad Singh},
  booktitle={Journal of medical case reports},
  year={2016}
}
BACKGROUND Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in… CONTINUE READING