Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature

Authors

  • Eva Bermejo-Sánchez,

    Corresponding author
    1. Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
    2. ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
    3. CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain
    • ECEMC, CIAC (Research Center on Congenital Anomalies), Instituto de Investigación de Enfermedades Raras, Instituto de Salud Carlos III, Avda. Monforte de Lemos, 5. Pabellón 3. 1a planta, 28029 Madrid, Spain.
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  • Lourdes Cuevas,

    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
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  • Emmanuelle Amar,

    1. Rhone-Alps Registry of Birth Defects REMERA, Lyon, France
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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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  • Fabrizio Bianchi,

    1. CNR Institute of Clinical Physiology and CNR-Tuscany Region “Gabriele Monasterio” Foundation, Pisa, 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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  • Mark A. Canfield,

    1. Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas
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  • Eduardo E. Castilla,

    1. INAGEMP (Instituto Nacional de Genética Médica Populacional), Brazil
    2. ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil and CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires, Argentina
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  • Maurizio Clementi,

    1. Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy
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  • Guido Cocchi,

    1. IMER Registry, Department of Pediatrics, Bologna University, Bologna, Italy
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  • Danielle Landau,

    1. Department of Neonatology, Soroka University Medical Center, Beer-Sheba, Israel
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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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  • R. Brian Lowry,

    1. Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada
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  • Pierpaolo Mastroiacovo,

    1. Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
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  • Osvaldo M. Mutchinick,

    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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  • Anke Rissmann,

    1. Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Germany
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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 Department, General Hospital “G. Rummo” Benevento, Italy
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  • Csaba Siffel,

    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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  • Elena Szabova,

    1. Slovak Teratologic Information Centre, Slovak Medical University, Bratislava, Slovak Republic
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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, Madrid, Spain
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  • How to cite this article: Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías M-L. 2011. Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. Am J Med Genet Part C Semin Med Genet 157: 305–320.

  • 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

Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52–0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. © 2011 Wiley Periodicals, Inc.

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