Abstract for presentation at 11th International Congress of Human Genetics

The Dysmorphology of Orofacial Clefting: Syndromes and Birth Defects associated with Cleft Lip and Palate in Victoria, Australia

  • Tiong Yang Tan, Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia, Australia
  • Jane Halliday, Victorian Perinatal Data Collection Unit, Melbourne, Australia, Australia
  • Katherine Ruivenkamp, Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia, Australia
  • Susan White, Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia, Australia

    • While many syndromes and malformations are known to occur with clefting, previous studies of the frequency of these associations have mostly been based on data ascertained through birth defect registries and have not included a dysmorphology assessment by a geneticist. There are little contemporary data collected with a comprehensive dysmorphologic assessment of a group of children within a defined age group. This study documents the dysmorphic features, associated malformations and developmental status of over 50 unselected children aged 2 to 5 years ascertained from the two major cleft surgery centres in Victoria, a state of Australia with about 63000 births annually. We describe the birth defects and syndromes in this cohort and compare them to the birth defects associated with cleft lip/palate reported to the Victorian Birth Defects Register in the years 2000-2002, including stillbirths and terminations of pregnancy. We assess the impact of termination of pregnancy on the frequency of malformations in children with clefting in the 21st century and provide new, comprehensive data on the dysmorphology associated with this malformation.

    Conference Organiser - ICMS Pty Ltd