Literature DB >> 18798307

Sirenomelia and cyclopia cluster in Cali, Colombia.

Eduardo E Castilla1, Pierpaolo Mastroiacovo, Jorge S López-Camelo, Wilmar Saldarriaga, Carolina Isaza, Iêda M Orioli.   

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. 2008 Wiley-Liss, Inc.

Entities:  

Mesh:

Substances:

Year:  2008        PMID: 18798307     DOI: 10.1002/ajmg.a.32506

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  13 in total

Review 1.  Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Authors:  Iêda M Orioli; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Fabrizio Bianchi; Mark A Canfield; Maurizio Clementi; Adolfo Correa; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-17       Impact factor: 3.908

Review 2.  Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

Authors:  Iêda M Orioli; Emmanuelle Amar; Jazmin Arteaga-Vazquez; Marian K Bakker; Sebastiano Bianca; Lorenzo D Botto; Maurizio Clementi; Adolfo Correa; Melinda Csaky-Szunyogh; Emanuele Leoncini; Zhu Li; Jorge S López-Camelo; R Brian Lowry; Lisa Marengo; María-Luisa Martínez-Frías; Pierpaolo Mastroiacovo; Margery Morgan; Anna Pierini; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

Review 3.  Health effects associated with the disposal of solid waste in landfills and incinerators in populations living in surrounding areas: a systematic review.

Authors:  Amalia Mattiello; Paolo Chiodini; Elvira Bianco; Nunzia Forgione; Incoronata Flammia; Ciro Gallo; Renato Pizzuti; Salvatore Panico
Journal:  Int J Public Health       Date:  2013-07-26       Impact factor: 3.380

4.  Sirenomelia: two cases in Cali, Colombia.

Authors:  Wilmar Saldarriaga; Maria Jimena Salcedo-Arellano; Julian Ramirez-Cheyne
Journal:  BMJ Case Rep       Date:  2015-01-30

5.  Geographic clusters of congenital anomalies in Argentina.

Authors:  Boris Groisman; Juan Gili; Lucas Giménez; Fernando Poletta; María Paz Bidondo; Pablo Barbero; Rosa Liascovich; Jorge López-Camelo
Journal:  J Community Genet       Date:  2016-08-19

6.  Two iniencephaly cases born the same day in the same hospital of Cali, Colombia. Iniencephaly cluster?

Authors:  Wilmar Saldarriaga; Carolina Isaza De Lourido; Fabian Andres Ruiz Murcia
Journal:  BMJ Case Rep       Date:  2014-04-15

7.  Value of sharing and networking among birth defects surveillance programs: an ICBDSR perspective.

Authors:  Eva Bermejo-Sánchez; Lorenzo D Botto; Marcia L Feldkamp; Boris Groisman; Pierpaolo Mastroiacovo
Journal:  J Community Genet       Date:  2018-09-18

8.  Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.

Authors:  Carlos Garrido-Allepuz; Domingo González-Lamuño; Maria A Ros
Journal:  PLoS One       Date:  2012-09-17       Impact factor: 3.240

Review 9.  A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

Authors:  Carlos Garrido-Allepuz; Endika Haro; Domingo González-Lamuño; María Luisa Martínez-Frías; Federica Bertocchini; Maria A Ros
Journal:  Dis Model Mech       Date:  2011-04-18       Impact factor: 5.758

10.  Sirenomelia in a Cameroonian woman: a case report and review of the literature.

Authors:  Frederick Li Morfaw; Philip N Nana
Journal:  F1000Res       Date:  2012-07-26
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.