Achondroplasia in the Northern Province, South Africa: Case finding through the genetic services system

E. De Koomen, S. P.M. Van Dinther, P. A. Venter, J. Modiba, C. Hutamo, R. Shimange, N. Ramatumbu, M. Sithole, O. Tshivase, J. J.P. Gille, P. F. Dijkstra, Leo P. Ten Kate

Research output: Contribution to journalArticleAcademicpeer-review


Objectives: To assess the feasibility of case finding with regard to genetic disorders through the Primary Health Care Genetic Services System in the rural Northern Province, which is one of the poorest and least developed provinces in South Africa. Methods: Achondroplasia was used as the object of this pilot study. Genetically trained nurses invited patients with known or suspected achondroplasia to attend a clinic. The patients were seen by two medical students and a genetic scientist, who selected cases meeting predefined clinical and anthropometric criteria. X-rays were taken and blood was sampled for mutation analysis. The study took place in the period from March to August 1997. The patients were seen at six local hospitals. Reviewing of the X-rays and mutation analysis took place in Amsterdam, The Netherlands. Results: Thirty-one patients were selected and invited to the clinics. From this group, presented to the medical students, 17 patients were thought to have achondroplasia. The selection was based on clinical features and anthropometrical measurements. After reviewing the X-rays and adding the results from the mutation analysis, 15 out of these 17 patients were diagnosed as having achondroplasia. Conclusion: The genetic nursing system proved to be effective for case finding in this rural setting. The system may serve as a model for genetic services in other underdeveloped regions.

Original languageEnglish
Pages (from-to)85-87
Number of pages3
JournalCommunity genetics
Issue number2
Publication statusPublished - 2000


  • Achondroplasia
  • Genetically trained nurses
  • South Africa

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