Ontology highlight
ABSTRACT:
SUBMITTER: de la Houssaye G
PROVIDER: S-EPMC1684248 | biostudies-literature | 2006
REPOSITORIES: biostudies-literature
de la Houssaye Guillaume G Bieche Ivan I Roche Olivier O Vieira Véronique V Laurendeau Ingrid I Arbogast Laurence L Zeghidi Hatem H Rapp Philippe P Halimi Philippe P Vidaud Michel M Dufier Jean-Louis JL Menasche Maurice M Abitbol Marc M
BMC medical genetics 20061129
<h4>Background</h4>Axenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in the genes encoding PITX2 or FOXC1. Here we describe a family affected by a severe form of ARS.<h4>Case presentation</h4>Two members of this family (father and daughter) presented with typical ARS and developed severe glaucoma. The ocular phenotype ...[more]