How to cite this article: Castilla EE, Mastroiacovo P, López-Camelo JS, Saldarriaga W, Isaza C, Orioli IM. 2008. Sirenomelia and cyclopia cluster in Cali, Colombia. Am J Med Genet Part A 146A:2626–2636.
Sirenomelia and cyclopia cluster in Cali, Colombia†
Article first published online: 16 SEP 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 20, pages 2626–2636, 15 October 2008
How to Cite
Castilla, E. E., Mastroiacovo, P., López-Camelo, J. S., Saldarriaga, W., Isaza, C. and Orioli, I. M. (2008), Sirenomelia and cyclopia cluster in Cali, Colombia. Am. J. Med. Genet., 146A: 2626–2636. doi: 10.1002/ajmg.a.32506
- Issue published online: 24 SEP 2008
- Article first published online: 16 SEP 2008
- Manuscript Accepted: 24 MAY 2008
- Manuscript Received: 6 JAN 2008
- CNPq/MS/DECIT, Brazil. Grant Numbers: 40.3444/2004-7, 40.1467/2004-0
- CNPq, Brazil. Grant Numbers: 472086/2004–9, 30.8885/2006-6, 501279/2003-2, 308885/2006-6
- FAPERJ, Brazil. Grant Numbers: E-26/152.831/2006, E-26/152831, E-26/152831/2006, E-26/171.492/2006
- Agencia Nacional de Promoción Científica y Tecnológica (ANPCyT), Argentina. Grant Number: PICTO-CRUP 2005#31101
- Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina
- Centre of the Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities Cooperative Agreement Number. Grant Number: U50/CCU207141
- South America
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. © 2008 Wiley-Liss, Inc.