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SIRENOMELIA: AN EPIDEMIOLOGIC STUDY IN A LARGE DATASET FROM THE INTERNATIONAL CLEARINGHOUSE OF BIRTH DEFECTS SURVEILLANCE AND RESEARCH, AND LITERATURE REVIEW
Orioli, Iêda M. et al. | Date Issued: 2011
Author
Orioli, Iêda M.
Amar, Emmanuelle
Arteaga-Vazquez, Jazmin
Bakker, Marian K.
Bianca, Sebastiano
Botto, Lorenzo D.
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 E.
Affilliation
ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Instituto de Biologia, Rio de Janeiro, Brasil / INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, Brasil
Rhone-Alps Registry of Birth Defects REMERA. Lyon, France.
Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”. Departamento de Genética, RYVEMCE (Registro y Vigilancia Epidemiológica de Malformaciones Congénitas). México City, Mexico.
University Medical Center Groningen. Department of Genetics. Eurocat Northern Netherlands. Groningen, The Netherlands.
Centro di Consulenza Genetica e di Teratologia della Riproduzione, Laboratorio di Citogenetica. Dipartimento Materno Infantile. Catania, Italy.
iversity of Utah Health Sciences Center. Department of Pediatrics. Division of Medical Genetics. Salt Lake City, Utah, USA / Utah Department of Health. Utah Birth Defect Network. Salt Lake City, Utah< USA.
University of Padua. Clinical Genetics Unit Department of Pediatrics. Padua, Italy.
Centers for Disease Control and Prevention. National Center on Birth Defects and Developmental Disabilities. Metropolitan Atlanta Congenital Defects Program. Atlanta, Georgia, USA.
National Center for Healthcare Audit and Inspection. Department of Hungarian Congenital Abnormality Registry and Surveillance. Budapest, Hungary.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
Peking University Health Science Center. National Center for Maternal and Infant Health. Beijing.People’s Republic of China.
INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, Brasil / ECLAMC at CEMIC (Centro de Educación Médica e Investigación Clínica). Buenos Aires, Argentina.
Alberta Congenital Anomalies Surveillance System. Alberta Health & Wellness. Calgary, Alberta, Canada
Texas Department of State Health Services. Birth Defects Epidemiology and Surveillance Branch. Texas, USA.
ECEMC (Spanish Collaborative Study of Congenital Malformations). Centro de Investigación sobre Anomalías Congénitas (CIAC). Instituto de Salud Carlos III (ISCIII). Madrid, Spain / CIBER de Enfermedades Raras (CIBERER) - (Centre for Biomedical Research on Rare Diseases). Madrid, Spain / Universidad Complutense de Madrid, Faculty of Medicine. Department of Pharmacology. Madri, Spain.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research.Rome, Italy.
CARIS. the Congenital Anomaly and Register for Wales. Singleton Hospital. Swansea, United Kingdom.
Tuscany Registry of Congenital Defects (RTDC). Epidemiology Unit, IFC-CNR.Pisa, Italy.
National Institute for Health and Welfare. The Finnish Register of Congenital Malformations. THL, Helsinki, Finland.
General Hospital “G. Rummo” Benevento. Birth Defects Campania Registry. Medical Genetics Dept. Italy.
Slovak Medical University. Slovak Teratologic Information Centre. Bratislava, Slovak Republic.
INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, Brasil / 4ECLAMC at CEMIC (Centro de Educación Médica e Investigación Clínica). Buenos Aires, Argentina / Fundação Oswaldo Cruz. .Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.
Abstract
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.
Keywords in Portuguese
Ectromelia
espectro de regressão caudal
geminação
Idade materna
Prevalência do mundo
disgenesia caudal
 
Keywords
sirenomelia
caudal regression spectrum
twinning
maternal age
world prevalence
caudal dysgenesis
 
Publisher
Wiley
Citation
ORIOLI, Iêda M. et al. Sirenomelia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Resaerch and LIterature review. Am J Med Genet C Semin Med Genet., v.0, n.4, p.358–373, NOv. 2011.
DOI
10.1002/ajmg.c.30324
ISSN
1552-4868