Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/16718

Type
Article
Copyright
Restricted access
Embargo date
2030-01-01
Collections
Share

Statistics
Metadata
Show full item record

CYCLOPIA: AN EPIDEMIOLOGIC STUDY IN A LARGE DATASET FROM THE INTERNATIONAL CLEARINGHOUSE OF BIRTH DEFECTS SURVEILLANCE AND RESEARCH
Orioli, Iêda M. et al. | Date Issued: 2011
Author
Orioli, Iêda M.
Amar, Emmanuelle
Bakker, Marian K.
Bermejo-Sánchez, Eva
Bianchi, Fabrizio
Canfield, Mark A.
Clementi, Maurizio
Correa, Adolfo
Csáky-Szunyogh, Melinda
Feldkamp, Marcia L.
Landau, Danielle
Leoncini, Emanuele
Li, Zhu
Lowry, R. Brian
Mastroiacovo, Pierpaolo
Morgan, Margery
Mutchinick, Osvaldo M.
Rissmann, Anke
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, Brasii / INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, Brasil..
Rhone-Alps Registry of Birth Defects REMERA. Lyon, France.
Eurocat Northern Netherlands. Department of Genetics. University Medical Center Groningen. Groningen, The Netherlands.
Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III (ISCIII). Madrid, Spain / 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.
Tuscany Registry of Congenital Defects (RTDC). Epidemiology Unit. IFC-CNR. Pisa, Italy.
Texas Department of State Health Services. Birth Defects Epidemiology and Surveillance Branch. Texas, USA.
University of Padua. Clinical Genetics Unit. Department of Pediatrics. Padua, Italy.
Centers for Disease Control and Prevention. Division of Birth Defects and Developmental Disabilities. Atlanta, Georgia, USA.
National Center for Healthcare Audit and Inspection. Department of Hungarian Congenital Abnormality Registry and Surveillance. Budapest, Hungary.
University of Utah Health Sciences Center. Division of Medical Genetics, Department of Pediatrics, Salt Lake City, Utah, USA / Utah Department of Health, Utah Birth Defect Network. Salt Lake City, Utah , USA.
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 and Wellness. Alberta Congenital Anomalies Surveillance System. Alberta, Canada.
Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Rome, Italy.
CARIS, the Congenital Anomaly Register for Wales. Singleton Hospital, Swansea, Wales.
Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán” Vasco de Quiroga 15, Sección XVI. Delegación Tlapan. Departamento de Genética, RYVEMCE (Registro y Vigilancia Epidemiológica de Malformaciones Congénitas),. Mexico.
University Magdeburg. Medical Faculty Otto-von-Guericke. Malformation Monitoring Centre Saxony-Anhalt. Germany.
National Institute of Health and Welfare. The Finnish Register of Congenital Malformations. THL, Helsinki, Finland.
General Hospital “G. Rummo” Benevento. Medical Genetics Dept. 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 / ECLAMC at CEMIC: Centro de Educación Medica e Investigacion Clínica. Buenos Aires, Argentina / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. ECLAMC at Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.
Abstract
Cyclopia is characterized by the presence of a single eye, with varying degrees of doubling of the intrinsic ocular structures, located in the middle of the face. It is the severest facial expression of the holoprosencephaly (HPE) spectrum. This study describes the prevalence, associated malformations, and maternal characteristics among cases with cyclopia. Data originated in 20 Clearinghouse (ICBDSR) affiliated birth defect surveillance systems, reported according to a single pre-established protocol. A total of 257 infants with cyclopia were identified. Overall prevalence was 1 in 100,000 births (95%CI: 0.89–1.14), with only one program being out of range. Across sites, there was no correlation between cyclopia prevalence and number of births (r = 0.08; P=0.75) or proportion of elective termination of pregnancy (r= −0.01; P=0.97). The higher prevalence of cyclopia among older mothers (older than 34) was not statistically significant. The majority of cases were liveborn (122/200; 61%) and females predominated (male/total: 42%). A substantial proportion of cyclopias (31%) were caused by chromosomal anomalies, mainly trisomy 13. Another 31% of the cases of cyclopias were associated with defects not typically related to HPE, with more hydrocephalus, heterotaxia defects, neural tube defects, and preaxial reduction defects than the chromosomal group, suggesting the presence of ciliopathies or other unrecognized syndromes. Cyclopia is a very rare defect without much variability in prevalence by geographic location. The heterogeneous etiology with a high prevalence of chromosomal abnormalities, and female predominance in HPE, were confirmed, but no effect of increased maternal age or association with twinning was observed.
Keywords in Portuguese
Cyclopia (Planta)
Holoprosencefalia
Prevalência
Trissomia
Epidemiologia
 
Keywords
cyclopia
holoprosencephaly
trisomy 13
prevalence
global
world prevalence
epidemiology
clincal
 
Publisher
Wiley
Citation
ORIOLI, Iêda M. et al. Cyclopia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research. Am J Med Genet C Semin Med Genet., v. 0, n.4, p.344–357, Nov. 2011.
ISSN
1552-4868