Abstract for presentation at 11th International Congress of Human Genetics

Epiphyseal Dysplasia and Other Skeletal Anomalies in a Patient with the 6p25 Microdeletion Syndrome

  • Dr Peter Kannu, Genetic Health Services Victoria, Melbourne, Australia, Australia
  • Dr Salim Aftimos, Northern Regional Genetics Service, Auckland, New Zealand, New Zealand
  • Mr Paul Oei, Cytogenetic Laboratory, Lab Plus, Auckland City Hospital, Auckland, New Zealand, New Zealand

    • The 6p25 microdeletion syndrome comprises the Axenfeld-Rieger eye anomaly in association with a characteristic facies, developmental delay, hearing loss and organ malformations. Skeletal anomalies in the form of hemivertebrae, clubfeet and other positional joint anomalies have also been described in some patients. We report on a patient with this microdeletion who in addition had abnormalities of the proximal femoral and humeral epiphyses. We suggest that an epiphyseal dysplasia may be an additional clinical component of the 6p25 microdeletion syndrome.

    Conference Organiser - ICMS Pty Ltd