Published in
Medical Science International Publishing, Medical Science Monitor, (20), p. 476-480
DOI: 10.12659/msm.890577
Links
- ORCID
- Medical Science International Publishing
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [www.researchgate.net]
- [www.ncbi.nlm.nih.gov] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
Tools
Medical and dental management of Alagille syndrome: A review
,
Iwona Mitura,
Katalin Nagy,
Elżbieta Prussak
Full text: Download
Abstract
Alagille syndrome is a rare, autosomal, complex, dominant disorder associated with dysfunction of the liver, heart, skeleton, and eyes, as well as characteristic facial appearance. It is associated with the defect in component of the Notch signalling pathway. Here, we review the main features of Alagille syndrome with special focus on oro-facial manifestations like prominent forehead, moderate hypertelorism with deep-set eyes, a saddle or straight nose with a flattened, bulbous tip, and large ears. The article is based on the most recent and significant literature available from the Medline database.