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,

    Corresponding author
    1. ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Instituto de Biologia, Rio de Janeiro, Brazil
    2. INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, Brazil
    • Departamento de Genética, Universidade Federal do Rio de Janeiro, Caixa Postal 68.011, 21944-970 Rio de Janeiro, Brazil.
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  • Emmanuelle Amar,

    1. Rhone-Alps Registry of Birth Defects REMERA, Lyon, France
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  • Jazmin Arteaga-Vazquez,

    1. Departamento de Genética, RYVEMCE (Registro y Vigilancia Epidemiológica de Malformaciones Congénitas), Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, México City, Mexico
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  • Marian K. Bakker,

    1. Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
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  • Sebastiano Bianca,

    1. Dipartimento Materno Infantile, Centro di Consulenza Genetica e di Teratologia della Riproduzione, Laboratorio di Citogenetica, P.O. Garibaldi, Nesima, Catania, Italy
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  • Lorenzo D. Botto,

    1. Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
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  • Maurizio Clementi,

    1. Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy
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  • Adolfo Correa,

    1. Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Melinda Csaky-Szunyogh,

    1. Department of Hungarian Congenital Abnormality Registry and Surveillance, National Center for Healthcare Audit and Inspection, Budapest, Hungary
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  • Emanuele Leoncini,

    1. Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
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  • Zhu Li,

    1. National Center for Maternal and Infant Health, Peking University Health Science Center, Beijing, People's Republic of China
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  • Jorge S. López-Camelo,

    1. INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, Brazil
    2. ECLAMC at CEMIC (Centro de Educación Médica e Investigación Clínica), Buenos Aires, Argentina
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  • R. Brian Lowry,

    1. Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada
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  • Lisa Marengo,

    1. Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas
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  • María-Luisa Martínez-Frías,

    1. ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
    2. CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain
    3. Department of Pharmacology, Faculty of Medicine, Universidad Complutense de Madrid, Spain
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  • Pierpaolo Mastroiacovo,

    1. Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
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  • Margery Morgan,

    1. CARIS, the Congenital Anomaly and Register for Wales, Singleton Hospital, Swansea, United Kingdom
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  • Anna Pierini,

    1. Tuscany Registry of Congenital Defects (RTDC), Epidemiology Unit, IFC-CNR, Pisa, Italy
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  • Annukka Ritvanen,

    1. The Finnish Register of Congenital Malformations, National Institute for Health and Welfare, THL, Helsinki, Finland
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  • Gioacchino Scarano,

    1. Birth Defects Campania Registry, Medical Genetics Dept, General Hospital “G. Rummo” Benevento, Italy
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  • Elena Szabova,

    1. Slovak Teratologic Information Centre, Slovak Medical University, Bratislava, Slovak Republic
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  • Eduardo E. Castilla

    1. INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, Brazil
    2. ECLAMC at CEMIC (Centro de Educación Médica e Investigación Clínica), Buenos Aires, Argentina
    3. ECLAMC at Laboratório de Epidemiologia de Malformações Congênitas, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil
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  • How to Cite this Article: Orioli IM, Amar E, Arteaga-Vazquez J, Bakker MK, Bianca S, Botto LD, Clementi M, Correa A, Csaky-Szunyogh M, Leoncini E, López-Camelo JS, Li Z, Lowry RB, Marengo L, Martínez-Frías ML, Mastroiacovo P, Morgan M, Pierini A, Ritvanen A, Scarano G, Szabova E, Castilla EE. 2011. Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. Am J Med Genet Part C Semin Med Genet 157: 358–373.

  • Disclaimer: The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention.

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. © 2011 Wiley Periodicals, Inc.

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