Abstract:
Several years ago, an eleven year old child was referred to the
Bone Clinic at Auckland Hospital with a history of multiple
vertebral fractures occurring after minimal trauma. She also
had severe visual impairment. Her care was taken over by Dr
Tim Cundy who specialises in paediatric bone disease. He
recognised her as fitting the diagnostic critieria for osteoporosis
pseudoglioma syndrome, a congenital condition of unknown
cause and with no known treatment – a depressingly common
combination of circumstances in the field of paediatric bone
disease. Tim established contact with a group at Case Western
Reserve University in Cleveland led by Dr Matt Warman, who
were attempting to identify the genetic lesion responsible for
this autosomal recessive condition. Accordingly, clinical data
and DNA were contributed from the Auckland patient and her
family. Another New Zealand patient and his family also took
part, and two families from Australia were recruited to the
international group, which included collaborators from fifteen
countries.