Artículo
Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review
Orioli, Ieda Maria; Amar, Emmanuelle; Arteaga Vazquez, Jazmin; Bakker, Marian K.; Bianca, Sebastiano; Botto, Lorenzo; Clementi, Maurizio; Correa, Adolfo; Csaky Szunyogh, Melinda; Leoncini, Emanuele; Li, Zhu; López Camelo, Jorge S.; Lowry, R. Brian; Marengo, Lisa; Martínez Frías, María Luisa; Mastroiacovo, Pierpaolo; Morgan, Margery; Pierini, Anna; Ritvanen, Annukka; Scarano, Gioacchino; Szabova, Elena; Castilla, Eduardo Enrique
![Icon](/themes/CONICETDigital/images/conicet.png)
Fecha de publicación:
08/2011
Editorial:
Wiley-liss, div John Wiley & Sons Inc.
Revista:
American Journal Of Medical Genetics Part C-seminars In Medical Genetics
ISSN:
1552-4868
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10–15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies. © 2011 Wiley Periodicals, Inc.
Palabras clave:
Sirenomelia
,
Epidemiologic
,
Clearinghouse
,
Research
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(IMBICE)
Articulos de INST.MULTIDISCIPL.DE BIOLOGIA CELULAR (I)
Articulos de INST.MULTIDISCIPL.DE BIOLOGIA CELULAR (I)
Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
Orioli, Ieda Maria; Amar, Emmanuelle; Arteaga Vazquez, Jazmin; Bakker, Marian K.; Bianca, Sebastiano; et al.; Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 157; 4; 8-2011; 358-373
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