HUM-MOLGEN DIAGnostics/Clinical Research

25 June 1997
Hypochondroplasia/Spinal patterning

We have a family with borderline dwarfism with interesting skeletal/spinal abnormalities. In all 3 affected generations 2 hemivertebrae are found on opposite sides of the spine (plus other spinal/bony defects). These 2 hemivertebrae always appear with an identical spinal distance between the hemivertebrae (a recurring period of 6 vertebrae).
We are interested in defining the cause of the periodic nature of these defective skeletal elements. We are keen for suggestions or collaborations into this phenotype. We thought the first step would be to investigate an FGFR link.

Any suggestions would be appreciated.

Raymond (
Dr Raymond Clarke
St George Hospital