File:Human bilateral renal agenesis-hypoplasia-dysplasia.png

Clinical and Radiological Features of BRAHD

Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD) is a relatively common, lethal malformation in humans. Established clinical risk factors include maternal insulin dependent diabetes mellitus and male sex of the fetus. In the majority of cases, no specific etiology can be established, although teratogenic, syndromal and single gene causes can be assigned to some cases. Translocation breakpoint mapping identified ESRRG as a plausible candidate gene for BRAHD.

Translocation breakpoint mapping was performed by interphase fluorescent in-situ hybridization (FISH) using nuclei extracted from archival tissue sections in both this case and an isolated bilateral renal agenesis case associated with a de novo 46,XY,t(1;2)(q41;p25.3). Both t(2;6) breakpoints mapped to gene-free regions with no strong evidence of cis-regulatory potential.

A. t(2;6) case shows a left lateral photograph of this fetus with craniorachischisis and severely abnormal facial structures.

B. Lateral radiograph showing the left upper limb with mild radial aplasia and the absence of the right upper limb. The axial skeleton is severely abnormal with multiple thoracocostal anomalies.

C. AP radiograph showing sirenomelia and extensive axial skeletal malformations.

Reference

<pubmed>20811621</pubmed>| PLoS One.

Copyright

© 2010 Harewood et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Original File name: Figure 1. Journal.pone.0012375.g001.png http://www.plosone.org/article/slideshow.action?uri=info:doi/10.1371/journal.pone.0012375&imageURI=info:doi/10.1371/journal.pone.0012375.g001