Sirenomelia and cyclopia cluster in Cali, Colombia
Eduardo E Castilla1, Pierpaolo Mastroiacovo, Jorge S López-Camelo
1ECLAMC: Latin-American Collaborative Study of Congenital Malformations, FIOCRUZ: Instituto Oswaldo Cruz, Rio de Janeiro, Brazil. castilla@centroin.com.br
Insights
A study in Cali, Colombia, identified a statistically significant cluster of sirenomelia and cyclopia cases. Proximity to a polluting landfill and specific environmental factors were investigated as potential causes for these rare congenital malformations.
Area of Science:
- Teratology and Environmental Epidemiology
- Congenital Malformations Research
- Public Health Surveillance
Background:
- Sirenomelia and cyclopia are rare congenital anomalies with shared etiologic and pathogenic characteristics.
- Understanding the environmental and geographical factors contributing to these malformations is crucial for public health.
- Previous studies have suggested potential links between environmental exposures and congenital defects.
Purpose of the Study:
- To describe and analyze a cluster of sirenomelia and cyclopia cases in Cali, Colombia.
- To investigate potential environmental risk factors, including proximity to a landfill and water sources.
- To assess the statistical significance and spatial distribution of the observed malformation cluster.
Main Methods:
- Case identification and descriptive analysis of sirenomelia and cyclopia occurrences within a defined period and location.
- Geographical analysis of maternal residence during early pregnancy in relation to potential environmental hazards.
- Computer-Assisted Telephone Interviewing (CATI) with mothers of affected infants and matched controls to collect exposure data.
- Statistical analysis of observed versus expected case ratios based on Latin American Collaborative Study of Congenital Malformations (ECLAMC) data.
Main Results:
- A statistically significant cluster of eight cases (four sirenomelia, four cyclopia) was identified within a 165-day period.
- Maternal residence for affected cases was concentrated near a polluting landfill and along the Cauca River downstream.
- Seven variables were associated with sirenomelia, including house tap water, street drug exposure, and physical injury; no specific factors were linked to cyclopia.
- Hair heavy metal analysis in mothers yielded inconsistent results.
Conclusions:
- The observed time-space cluster of sirenomelia is statistically nonrandom, suggesting a potential environmental etiology.
- A polluting landfill is identified as a possible etiological factor requiring further investigation.
- While cyclopia cluster might be random, shared etiologies warrant continued surveillance and research into environmental impacts on congenital malformations.
Abstract:
Sirenomelia and cyclopia share etiologic and pathogenic characteristics. A cluster of these two patterns of malformation in the city of Cali, Colombia, is described. Four sirenomelia and four cyclopia cases were born within a 165 days period in one hospital in Cali. The lapse between conception dates of first and last cases was shorter for sirenomelia (53 days) than for cyclopia (231 days). Based on ECLAMC (Latin American Collaborative Study of Congenital Malformations) published data, the observed/expected ratio (5.7) for both defects is statistically significant (P < 0.001). Mother's residence during the first trimester of pregnancy is concentrated in a same city quarter for four of the eight cases, close to a know polluting active landfill, and the other four cases, along the Cauca river, downstream from this landfill. Birth prevalence rates for two sentinel anomalies, that is, anal and esophageal atresia for sirenomelia and oral clefts for DeMyer holoprosencephaly spectra, were not higher in Cali than in the rest of ECLAMC material. The Computer Assisted Telephone Interviewing was applied to mothers of the 8 patients, and 32 matched controls. Seven of 295 variables were associated with sirenomelia, 3 of them related to house tap water, one to exposure to street drugs, one to physical injury, and 2 secondary to abnormal pregnancy outcome. None was associated with cyclopia. Results from hair dosage of heavy metals in the 8 patient's mothers were inconsistent. The time-space cluster is nonrandom for sirenomelia, and possibly random for cyclopia. The polluting landfill remains as a possible etiological factor.
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