HUM-MOLGEN DIAGnostics/Clinical Research

 


24/10/96
Currarino Triad/PT Request


My family was diagnosed with Currarino Triad (OMIM 176450) by Dr. Janet Stewart at The Children's Hospital in Denver. We are hoping a research team will study the syndrome and find the gene for us. It is an autosomal dominant condition with variable penetration. Symptoms include: anterior meningocele/presacral mass renal reflux and other UT anomolies imperforate anus. A research team in the UK found 7q36 responsible in one family, but we have been told this is not enough information to help our family. We have three, and maybe four, generations that could be studied. Any assistance or information about teams interested in studying this would be appreciated!


PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK (gambacorti@icil64.cilea.it)