Advertisement

The Surveillance of Birth Defects in South America: II. The Search for Geographic Clusters: Endemics

  • E. E. Castilla
  • R. Sod
Part of the Advances in Mutagenesis Research book series (MUTAGENESIS, volume 2)

Abstract

Unusual frequency distributions of diseases involve a given diagnosis, within a given place, in a given time. However, this time-space constraint is frequently better defined for only one of these two variables. Time clusters are known as epidemics, and space clusters as endemics. Since time-space clusters are also known as epidemics, time seems to be the leading defining characteristic, probably due to the fact that the conceptual frame of epidemiology is based on infectious (communicable) diseases.

Keywords

Ataxia Telangiectasia Geographic Cluster Autosomal Recessive Trait Bloom Syndrome Parental Branch 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Arias S (1976) Etiologia multiple del enanismo entre los indios Yukpa (Yrapa) de la sierra de Perija llamados “pigmoides”. Bol Indigena Venezol 17: 49–70Google Scholar
  2. Arias S (1980) Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Original Article Ser 7: 87–101Google Scholar
  3. Bonne-Tamir B (1980) The Samaritans: an ancient living isolate. In: Population Structure and Genetic Disorders 27–41 Ed A W Erikkson. Academic Press, New YorkGoogle Scholar
  4. Castilla EE, Adams JP (1990) Migration and genetic structure in an isolated population in Argentina: Aicuna. In: Adams JP (ed) Convergent questions in genetics and demography. Oxford Univ Press, OxfordGoogle Scholar
  5. Castilla EE, Orioli IM (1986) Prevalence rates of microtia in South America. Int J Epidemiol 15: 364–368PubMedCrossRefGoogle Scholar
  6. Castilla EE, Paz JE, Mutchinick OM, Munoz EN, Giorgiutti E, Gelman Z (1973) Polydactyly: a genetic study in South America. Am J Hum Genet 25: 405–412PubMedGoogle Scholar
  7. Castilla EE, Paz JE, Orioli-Parreiras IM (1980) Syndactyly: frequency of specific types. Am J Med Genet 5: 357–364PubMedCrossRefGoogle Scholar
  8. Castilla E, Czeizel A, Kallen B et al. (1986) Methodology for birth defects monitoring. Birth Defects Original Article Ser 22 (5): 1–43Google Scholar
  9. CBDMP Progress Report (1987) July 1,1985—June 30,1987. California Birth Defects Monitoring Program. BerkeleyGoogle Scholar
  10. Freire-Maia A (1981) Historical note: The extraordinary handless and footless families of Brazil — 50 years of acheiropodia. Am J Med Genet 9: 31–41PubMedCrossRefGoogle Scholar
  11. Freire-Maia N, Laynes-de-Andrade F, Atayde-Neto A et al. (1978) Genetic investigations in a northern Brazilian island: II-Random drift. Hum Hered 28: 401–410PubMedCrossRefGoogle Scholar
  12. Galvez S, Masters C, Gadjusek DC (1980) Descriptive epidemiology of Creutzfeldt-Jakob disease in Chile. Arch Neurol 37: 11–14PubMedCrossRefGoogle Scholar
  13. Grether JK, Harris JA, Hexter AC, Jackson RJ (1988) Investigating clusters of birth defects: guidelines for a systematic approach. California Birth Defects Monitoring Program. BerkeleyGoogle Scholar
  14. Hill HD (1977) Two cases of Ellis-van Creveld syndrome in a small island population. J Med Genet 14: 33–36PubMedCrossRefGoogle Scholar
  15. Hostetler H (1974) Hutterite society. Johns Hopkins Univ Press, BaltimoreGoogle Scholar
  16. Israel H, Johnston GF, Fierro-Benitez R (1983) Craniofacial malformation among endemic cretins in Ecuador. J Craniofac Genet Dev Biol 3: 3–10PubMedGoogle Scholar
  17. Kolata G (1983) Huntington’s disease gene located. Science 222: 913–915PubMedCrossRefGoogle Scholar
  18. Kremer RD, Levstain IM (1980) Enfermedad de Sandhoff o gangliosidosis GM2 Tipo-2. Medicina 40: 55–73Google Scholar
  19. Martinez-Frias ML, Sanchez-Cascos A (1974) Sindrome de Ellis-van Creveld. Rev Clin Esp 133: 311–318PubMedGoogle Scholar
  20. McKusick VA (1978) Medical genetic studies of the Amish. Johns Hopkins Univ Press, Baltimore McKusick VA (1988) Mendelian inheritance in man, 9th Edn. Johns Hopkins Univ Press, BaltimoreGoogle Scholar
  21. Monteleone-Neto R, Castilla EE, Paz JE (1981) Hypospadias: an epidemiological study in Latin America. Am J Med Genet 10: 5–19PubMedCrossRefGoogle Scholar
  22. Oliveira-da Silva E, Janovitz D, Albuquerque SC (1980) Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. J Med Genet 17: 349–356CrossRefGoogle Scholar
  23. Prunes L, Hevia H, Alarcon R (1953) Hiperqueratosis cronica regional de Pisagua. Rev med Chile 81: 408–412PubMedGoogle Scholar
  24. Purriel P, Drets M, Pascale E et al. (1970) Familial hereditary nephropathy ( Alport’s syndrome ). Am J Med 49: 753–773PubMedCrossRefGoogle Scholar
  25. Quelce-Salgado A (1964) A new type of dwarfism with various bone aplasias and hypoplasias of the extremities. Acta Genet 14: 63–66PubMedGoogle Scholar
  26. Reginato A, Hollander JL, Martinez V et al. (1975) Familial chondrocalcinosis in Chiloe Islands, Chile. Ann Rheum Dis 34: 260–268PubMedCrossRefGoogle Scholar
  27. Reyes H, Gonzalez MC, Ribalta J et al. (1978) Prevalence of intrahepatic cholestasis in Chile. Ann Int Med 88: 487–493PubMedGoogle Scholar
  28. Roberts DF (1980) Genetic structure and the pathology of an isolated population. In: Erikkson AW (ed) Population structure and genetic disorders. Academic Press, New York, pp 7–25Google Scholar
  29. Rosin MP, German J (1985) Evidence for chromosome instability in vivo in Bloom syndrome: increased number of micronuclei in exfoliated cells. Hum Genet 71: 187–191PubMedCrossRefGoogle Scholar
  30. Rosin MP, Ochs HD (1986) In vivo chromosomal instability on ataxia telangiectasia homozygotes and heterozygotes. Hum Genet 74: 335–340PubMedCrossRefGoogle Scholar
  31. Shine I (1965) The influences of environment and inbreeding on disease in the island of Santa Helena. Thesis, Oxford UniversityGoogle Scholar
  32. Sod R (1989) Estudio Clinicoepidemiologico del Sindrome de Ellis-van Creveld. Doct Thesis, Buenos Aires Univ, School of Medicine, Buenos AiresGoogle Scholar
  33. Thompson EA (1990) From history to genes; from genes to history. In: Adams JP (ed) Convergent questions in genetics and demography. Oxford Univ Press, OxfordGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1990

Authors and Affiliations

  • E. E. Castilla
  • R. Sod
    • 1
    • 2
  1. 1.Dep. de GeneticaInstituto Oswaldo Cruz, FIOCRUZRio de JaneiroBrazil
  2. 2.IMBICELa PlataArgentina

Personalised recommendations