title: Descriptive epidemiology of selected heritable birth defects in Texas.
abstract: BACKGROUND
  Few population-based studies exist on descriptive epidemiologic characteristics of rare heritable birth defects. The number of birth defect cases in the Texas Birth Defects Registry (one of the largest active birth defects surveillance systems in the world) enabled us to examine six different heritable disorders (aqueductal stenosis, infantile polycystic kidney disease, achondroplasia, thanatophoric dwarfism, chondrodysplasia/dwarfism not otherwise specified (NOS), and osteogenesis imperfecta) for a variety of descriptive demographic variables.
  
  
  METHODS
  The Texas Birth Defects Registry was used to identify infants or fetuses with heritable birth defects. Crude prevalence rates were calculated and Poisson regression was used to test the association of each demographic variable (e.g., maternal age) with each of the selected genetic birth defects.
  
  
  RESULTS
  White non-Hispanics exhibited higher rates of achondroplasia and osteogenesis imperfecta than other race/ethnic groups. Lower maternal education level and to a lesser extent, paternal education level, was associated with higher rates of several disorders. The birth prevalence rate for achondroplasia decreased from 1999 through 2006.
  
  
  CONCLUSIONS
  The use of a large birth defects registry provides a sufficient count of cases to perform some basic epidemiologic analysis on selected rare heritable birth defects.
authors.affiliation: Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas 78714-9347, USA. Karen.Moffitt@dshs.state.tx.us
authors.forename: Karen B
authors.initials: KB
authors.lastname: Moffitt
authors.forename: Oseni O
authors.initials: OO
authors.lastname: Abiri
authors.forename: Angela E
authors.initials: AE
authors.lastname: Scheuerle
authors.forename: Peter H
authors.initials: PH
authors.lastname: Langlois
mesh_terms: D000130:Achondroplasia / Q000208:ethnology* / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D004392:Dwarfism / Q000208:ethnology* / Q000235:genetics / Q000473:pathology; D004522:Educational Status; D005006:Ethnicity; D005260:Female; D005333:Fetus; D006801:Humans; D006849:Hydrocephalus / Q000151:congenital / Q000208:ethnology* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D008423:Maternal Age; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000208:ethnology* / Q000235:genetics / Q000473:pathology; D007690:Polycystic Kidney Diseases / Q000151:congenital / Q000208:ethnology* / Q000235:genetics; D011159:Population Surveillance; D015995:Prevalence; D012042:Registries; D012044:Regression Analysis; D012424:Rural Population; D013781:Texas / Q000453:epidemiology; D014505:Urban Population