AI Article Synopsis
- Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by various abnormalities affecting multiple organs due to issues with cilia, which are tiny hair-like structures in cells.
- The disorder typically manifests over time, with symptoms not becoming apparent until several years after birth.
- Prenatal ultrasound may indicate potential BBS if enlarged kidneys and extra digits (postaxial polydactyly) are observed.
Article Abstract
Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378842 | PMC |
| http://dx.doi.org/10.1002/ccr3.859 | DOI Listing |
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