title: Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes.
abstract: Using a sample of 710,815 liveborn infants throughout Spain, monitored from April, 1976, to December, 1988, by the Spanish Collaborative Study of Congenital Malformations (ECEMC), we estimated the prevalence of each recognized autosomal dominant malformation syndrome for a total prevalence figure of 12.1 per 100,000 live births, including all detected autosomal dominant malformations syndromes. We estimated that the mutation rate for those syndromes was 48.5 per 1,000,000 gametes. The geographical distribution of these syndromes was homogeneous in the Spanish Regions.
authors.affiliation: Estudio Colaborativo Español de Malformaciones Congénitas, ECEMC, Hospital Universitario San Carlos, Facultad de Medicina, Madrid, Spain.
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: A
authors.initials: A
authors.lastname: Cereijo
authors.forename: E
authors.initials: E
authors.lastname: Bermejo
authors.forename: M
authors.initials: M
authors.lastname: López
authors.forename: M
authors.initials: M
authors.lastname: Sánchez
authors.forename: C
authors.initials: C
authors.lastname: Gonzalo
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology*; D001723:Birth Rate; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015995:Prevalence; D013030:Spain / Q000453:epidemiology