HUM-MOLGEN DIAGnostics/Clinical Research

2 March 1998
SPONDILOTHORACIC DYSOSTOSIS/JARCHO-LEVIN 

I saw a patient with the diagnosis of Jarcho-Levin S., and with some other visceral anomalies not commonly associated with this syndrome.

There has been some hypothesis of linking this syndrome with Pax9 or Pax1 genes. I would like to know if there is anyone doing any research on this hypothesis that would like to study a DNA sample of this patient.

Thank you very much

Jose Carlos Ferreira, MD Genetics Fellow
Albert Einstein College of Medicine Montefiore Medical Center
email: <zec@inx.net>