Sirenomelia and cyclopia cluster in Cali, Colombia
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 date...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2008-10, Vol.146A (20), p.2626-2636 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Castilla, Eduardo E. Mastroiacovo, Pierpaolo López-Camelo, Jorge S. Saldarriaga, Wilmar Isaza, Carolina Orioli, Iêda M. |
| description | 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 |
| doi_str_mv | 10.1002/ajmg.a.32506 |
| format | Article |
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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.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.32506</identifier><identifier>PMID: 18798307</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - epidemiology ; Abnormalities, Multiple - etiology ; Abnormalities, Multiple - pathology ; Adult ; Anus, Imperforate - etiology ; Anus, Imperforate - pathology ; Cali ; Cleft Palate - etiology ; Cleft Palate - pathology ; Cluster Analysis ; clusters ; Colombia - epidemiology ; cyclopia ; ECLAMC ; Ectromelia - epidemiology ; Ectromelia - etiology ; Ectromelia - pathology ; Esophageal Atresia - etiology ; Esophageal Atresia - pathology ; Eye Abnormalities - epidemiology ; Eye Abnormalities - etiology ; Eye Abnormalities - pathology ; Female ; Humans ; Infant, Newborn ; Male ; Maternal Exposure ; Metals, Heavy - analysis ; Pregnancy ; Residence Characteristics ; sirenomelia ; South America ; Stillbirth ; Surveys and Questionnaires ; Time Factors ; Water Pollutants, Chemical</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>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.</description><subject>Abnormalities, Multiple - epidemiology</subject><subject>Abnormalities, Multiple - etiology</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Adult</subject><subject>Anus, Imperforate - etiology</subject><subject>Anus, Imperforate - pathology</subject><subject>Cali</subject><subject>Cleft Palate - etiology</subject><subject>Cleft Palate - pathology</subject><subject>Cluster Analysis</subject><subject>clusters</subject><subject>Colombia - epidemiology</subject><subject>cyclopia</subject><subject>ECLAMC</subject><subject>Ectromelia - epidemiology</subject><subject>Ectromelia - etiology</subject><subject>Ectromelia - pathology</subject><subject>Esophageal Atresia - etiology</subject><subject>Esophageal Atresia - pathology</subject><subject>Eye Abnormalities - epidemiology</subject><subject>Eye Abnormalities - etiology</subject><subject>Eye Abnormalities - pathology</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Maternal Exposure</subject><subject>Metals, Heavy - analysis</subject><subject>Pregnancy</subject><subject>Residence Characteristics</subject><subject>sirenomelia</subject><subject>South America</subject><subject>Stillbirth</subject><subject>Surveys and Questionnaires</subject><subject>Time Factors</subject><subject>Water Pollutants, Chemical</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kD1PwzAQhi0EolDYmFEmpqac7cZOxhLRAi0f4kOMluM6yMVJit0I-u9JSSkb091Jz_vq9CB0gqGPAci5nBdvfdmnJAK2gw5wFJFwEFO6u91J1EGH3s8BKESc7aMOjnkSU-AHiDwZp8uq0NbIQJazQK2UrRbNoWztl9oFpgxSaU0vSCtbFZmRR2gvl9br483sopfR5XN6FU7vx9fpcBqqARAW4pwRoHEy4ImkmeQJZAyav5SCjBIWK6w150TlGWYNmTMZUdAqoyrBNM8x7aKztnfhqo9a-6UojFfaWlnqqvaCAMZxTHgD9lpQucp7p3OxcKaQbiUwiLUjsXYkpPhx1OCnm946K_TsD95IaQDaAp_G6tW_ZWJ4czv-rQ3blGm0fW1T0r0LximPxOvdWIwmJHqcPFyICf0GhB1_2g</recordid><startdate>20081015</startdate><enddate>20081015</enddate><creator>Castilla, Eduardo E.</creator><creator>Mastroiacovo, Pierpaolo</creator><creator>López-Camelo, Jorge S.</creator><creator>Saldarriaga, Wilmar</creator><creator>Isaza, Carolina</creator><creator>Orioli, Iêda M.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20081015</creationdate><title>Sirenomelia and cyclopia cluster in Cali, Colombia</title><author>Castilla, Eduardo E. ; Mastroiacovo, Pierpaolo ; López-Camelo, Jorge S. ; Saldarriaga, Wilmar ; Isaza, Carolina ; Orioli, Iêda M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4026-1f620389479a3ba790b60833cc0b3268c1ee772cfb16620f6a530ecb3c913ff13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Abnormalities, Multiple - epidemiology</topic><topic>Abnormalities, Multiple - etiology</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Adult</topic><topic>Anus, Imperforate - etiology</topic><topic>Anus, Imperforate - pathology</topic><topic>Cali</topic><topic>Cleft Palate - etiology</topic><topic>Cleft Palate - pathology</topic><topic>Cluster Analysis</topic><topic>clusters</topic><topic>Colombia - epidemiology</topic><topic>cyclopia</topic><topic>ECLAMC</topic><topic>Ectromelia - epidemiology</topic><topic>Ectromelia - etiology</topic><topic>Ectromelia - pathology</topic><topic>Esophageal Atresia - etiology</topic><topic>Esophageal Atresia - pathology</topic><topic>Eye Abnormalities - epidemiology</topic><topic>Eye Abnormalities - etiology</topic><topic>Eye Abnormalities - pathology</topic><topic>Female</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Maternal Exposure</topic><topic>Metals, Heavy - analysis</topic><topic>Pregnancy</topic><topic>Residence Characteristics</topic><topic>sirenomelia</topic><topic>South America</topic><topic>Stillbirth</topic><topic>Surveys and Questionnaires</topic><topic>Time Factors</topic><topic>Water Pollutants, Chemical</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Castilla, Eduardo E.</creatorcontrib><creatorcontrib>Mastroiacovo, Pierpaolo</creatorcontrib><creatorcontrib>López-Camelo, Jorge S.</creatorcontrib><creatorcontrib>Saldarriaga, Wilmar</creatorcontrib><creatorcontrib>Isaza, Carolina</creatorcontrib><creatorcontrib>Orioli, Iêda M.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Castilla, Eduardo E.</au><au>Mastroiacovo, Pierpaolo</au><au>López-Camelo, Jorge S.</au><au>Saldarriaga, Wilmar</au><au>Isaza, Carolina</au><au>Orioli, Iêda M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sirenomelia and cyclopia cluster in Cali, Colombia</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2008-10-15</date><risdate>2008</risdate><volume>146A</volume><issue>20</issue><spage>2626</spage><epage>2636</epage><pages>2626-2636</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><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.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>18798307</pmid><doi>10.1002/ajmg.a.32506</doi><tpages>11</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - epidemiology Abnormalities, Multiple - etiology Abnormalities, Multiple - pathology Adult Anus, Imperforate - etiology Anus, Imperforate - pathology Cali Cleft Palate - etiology Cleft Palate - pathology Cluster Analysis clusters Colombia - epidemiology cyclopia ECLAMC Ectromelia - epidemiology Ectromelia - etiology Ectromelia - pathology Esophageal Atresia - etiology Esophageal Atresia - pathology Eye Abnormalities - epidemiology Eye Abnormalities - etiology Eye Abnormalities - pathology Female Humans Infant, Newborn Male Maternal Exposure Metals, Heavy - analysis Pregnancy Residence Characteristics sirenomelia South America Stillbirth Surveys and Questionnaires Time Factors Water Pollutants, Chemical |
| title | Sirenomelia and cyclopia cluster in Cali, Colombia |
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