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2030-01-01
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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
Author
Bermejo-Sánchez, Eva
Cuevas, Lourdes
Amar, Emmanuelle
Bianca, Sebastiano
Bianchi, Fabrizio
Botto, Lorenzo D.
Canfield, Mark A.
Castilla, Eduardo E.
Clementi, Maurizio
Cocchi, Guido
Landau, Danielle
Leoncini, Emanuele
Li, Zhu
Lowry, R. Brian
Mastroiacovo, Pierpaolo
Mutchinick, Osvaldo M.
Rissmann, Anke
Ritvanen, Annukka
Scarano, Gioacchino
Siffel, Csaba
Szabova, Elena
Martínez-Frías, María Luisa
Cuevas, Lourdes
Amar, Emmanuelle
Bianca, Sebastiano
Bianchi, Fabrizio
Botto, Lorenzo D.
Canfield, Mark A.
Castilla, Eduardo E.
Clementi, Maurizio
Cocchi, Guido
Landau, Danielle
Leoncini, Emanuele
Li, Zhu
Lowry, R. Brian
Mastroiacovo, Pierpaolo
Mutchinick, Osvaldo M.
Rissmann, Anke
Ritvanen, Annukka
Scarano, Gioacchino
Siffel, Csaba
Szabova, Elena
Martínez-Frías, María Luisa
Affilliation
Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII). Madrid, Spain / Instituto de Salud Carlos III (ISCIII). Centro de Investigación sobre Anomalías Congénitas (CIAC). ECEMC (Spanish Collaborative Study of Congenital Malformations). Madrid, Spain / CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases). Madrid, Spain.
Instituto de Salud Carlos III (ISCIII). Centro de Investigación sobre Anomalías Congénitas (CIAC). ECEMC (Spanish Collaborative Study of Congenital Malformations). Madrid, Spain / CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases). Madrid, Spain.
Rhone-Alps Registry of Birth Defects REMERA. Lyon, France
Centro di Consulenza Genetica e di Teratologia della Riproduzione. Laboratorio di Citogenetica. Dipartimento Materno Infantile. Catania, Italy.
CNR-Tuscany Region “Gabriele Monasterio” Foundation. CNR Institute of Clinical Physiology. Pisa, Italy.
University 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.
Texas Department of State Health Services. Birth Defects Epidemiology and Surveillance Branch. Austin, Texas, USA.
INAGEMP (Instituto Nacional de Genética Médica Populacional), Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas). Rio de Janeiro, RJ, Brasil / CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires. Argentina.
University of Padua, Department of Pediatrics. Clinical Genetics Unit. Padua, Italy.
Bologna University. Department of Pediatrics. IMER Registry. Bologna, Italy.
Soroka University Medical Center. Department of Neonatology. Beer-Sheba, Israel.
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.
Alberta Health & Wellness. Alberta Congenital Anomalies Surveillance System. Calgary, Alberta, Canada.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, Departamento de Genética, RYVEMCE (Registro y Vigilancia Epidemiológica de Malformaciones Congénitas). México City, Mexico.
Otto-von-Guericke University Magdeburg. Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty . Germany.
National Institute for Health and Welfare, THL. The Finnish Register of Congenital Malformations. Helsinki, Finland.
General Hospital “G. Rummo” Benevento. Medical Genetics Department. Birth Defects Campania Registry. Italy.
Centers for Disease Control and Prevention. National Center on Birth Defects and Developmental Disabilities. Metropolitan Atlanta Congenital Defects Program. Atlanta, Georgia, USA.
Slovak Medical University. Slovak Teratologic Information Centre. Bratislava, Slovak Republic.
Instituto de Salud Carlos III (ISCIII). Centro de Investigación sobre Anomalías Congénitas (CIAC). ECEMC (Spanish Collaborative Study of Congenital Malformations). Madrid, Spain / CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases). Madrid, Spain / Universidad Complutense de Madrid. Faculty of Medicine. Deparmento of Pharmacology. Madrid, Spain.
Instituto de Salud Carlos III (ISCIII). Centro de Investigación sobre Anomalías Congénitas (CIAC). ECEMC (Spanish Collaborative Study of Congenital Malformations). Madrid, Spain / CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases). Madrid, Spain.
Rhone-Alps Registry of Birth Defects REMERA. Lyon, France
Centro di Consulenza Genetica e di Teratologia della Riproduzione. Laboratorio di Citogenetica. Dipartimento Materno Infantile. Catania, Italy.
CNR-Tuscany Region “Gabriele Monasterio” Foundation. CNR Institute of Clinical Physiology. Pisa, Italy.
University 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.
Texas Department of State Health Services. Birth Defects Epidemiology and Surveillance Branch. Austin, Texas, USA.
INAGEMP (Instituto Nacional de Genética Médica Populacional), Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas). Rio de Janeiro, RJ, Brasil / CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires. Argentina.
University of Padua, Department of Pediatrics. Clinical Genetics Unit. Padua, Italy.
Bologna University. Department of Pediatrics. IMER Registry. Bologna, Italy.
Soroka University Medical Center. Department of Neonatology. Beer-Sheba, Israel.
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.
Alberta Health & Wellness. Alberta Congenital Anomalies Surveillance System. Calgary, Alberta, Canada.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, Departamento de Genética, RYVEMCE (Registro y Vigilancia Epidemiológica de Malformaciones Congénitas). México City, Mexico.
Otto-von-Guericke University Magdeburg. Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty . Germany.
National Institute for Health and Welfare, THL. The Finnish Register of Congenital Malformations. Helsinki, Finland.
General Hospital “G. Rummo” Benevento. Medical Genetics Department. Birth Defects Campania Registry. Italy.
Centers for Disease Control and Prevention. National Center on Birth Defects and Developmental Disabilities. Metropolitan Atlanta Congenital Defects Program. Atlanta, Georgia, USA.
Slovak Medical University. Slovak Teratologic Information Centre. Bratislava, Slovak Republic.
Instituto de Salud Carlos III (ISCIII). Centro de Investigación sobre Anomalías Congénitas (CIAC). ECEMC (Spanish Collaborative Study of Congenital Malformations). Madrid, Spain / CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases). Madrid, Spain / Universidad Complutense de Madrid. Faculty of Medicine. Deparmento of Pharmacology. Madrid, Spain.
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.
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