Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review (Articolo in rivista)

Type
Label
  • Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review (Articolo in rivista) (literal)
Anno
  • 2011-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/ajmg.c.30324 (literal)
Alternative label
  • Orioli, IM (Orioli, Ieda M.)[ 1,2 ] ; Amar, E (Amar, Emmanuelle)[ 3 ] ; Arteaga-Vazquez, J (Arteaga-Vazquez, Jazmin)[ 4 ] ; Bakker, MK (Bakker, Marian K.)[ 5 ] ; Bianca, S (Bianca, Sebastiano)[ 6 ] ; Botto, LD (Botto, Lorenzo D.)[ 7,8 ] ; Clementi, M (Clementi, Maurizio)[ 9 ] ; Correa, A (Correa, Adolfo)[ 10 ] ; Csaky-Szunyogh, M (Csaky-Szunyogh, Melinda)[ 11 ] ; Leoncini, E (Leoncini, Emanuele)[ 12 ] ; Li, Z (Li, Zhu)[ 13 ] ; Lopez-Camelo, JS (Lopez-Camelo, Jorge S.)[ 2,14 ] ; Lowry, RB (Lowry, R. Brian)[ 15 ] ; Marengo, L (Marengo, Lisa)[ 16 ] ; Martinez-Frias, ML (Martinez-Frias, Maria-Luisa)[ 17,18,19 ] ; Mastroiacovo, P (Mastroiacovo, Pierpaolo)[ 12 ] ; Morgan, M (Morgan, Margery)[ 20 ] ; Pierini, A (Pierini, Anna)[ 21 ] ; Ritvanen, A (Ritvanen, Annukka)[ 22 ] ; Scarano, G (Scarano, Gioacchino)[ 23 ] ; Szabova, E (Szabova, Elena)[ 24 ] ; Castilla, EE (Castilla, Eduardo E.)[ (2011)
    Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review
    in American journal of medical genetics. Part C, Seminars in medical genetics
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Orioli, IM (Orioli, Ieda M.)[ 1,2 ] ; Amar, E (Amar, Emmanuelle)[ 3 ] ; Arteaga-Vazquez, J (Arteaga-Vazquez, Jazmin)[ 4 ] ; Bakker, MK (Bakker, Marian K.)[ 5 ] ; Bianca, S (Bianca, Sebastiano)[ 6 ] ; Botto, LD (Botto, Lorenzo D.)[ 7,8 ] ; Clementi, M (Clementi, Maurizio)[ 9 ] ; Correa, A (Correa, Adolfo)[ 10 ] ; Csaky-Szunyogh, M (Csaky-Szunyogh, Melinda)[ 11 ] ; Leoncini, E (Leoncini, Emanuele)[ 12 ] ; Li, Z (Li, Zhu)[ 13 ] ; Lopez-Camelo, JS (Lopez-Camelo, Jorge S.)[ 2,14 ] ; Lowry, RB (Lowry, R. Brian)[ 15 ] ; Marengo, L (Marengo, Lisa)[ 16 ] ; Martinez-Frias, ML (Martinez-Frias, Maria-Luisa)[ 17,18,19 ] ; Mastroiacovo, P (Mastroiacovo, Pierpaolo)[ 12 ] ; Morgan, M (Morgan, Margery)[ 20 ] ; Pierini, A (Pierini, Anna)[ 21 ] ; Ritvanen, A (Ritvanen, Annukka)[ 22 ] ; Scarano, G (Scarano, Gioacchino)[ 23 ] ; Szabova, E (Szabova, Elena)[ 24 ] ; Castilla, EE (Castilla, Eduardo E.)[ (literal)
Pagina inizio
  • 358 (literal)
Pagina fine
  • 373 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 157 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 16 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 4 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • [ 1 ] Inst Biol, Dept Genet, ECLAMC, Rio De Janeiro, Brazil [ 2 ] INAGEMP, Rio De Janeiro, Brazil [ 3 ] Rhone Alps Registry Birth Defects REMERA, Lyon, France [ 4 ] Inst Nacl Ciencias Med & Nutr Salvador Zubiran, RYVEMCE, Dept Genet, Mexico City, DF, Mexico [ 5 ] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9713 AV Groningen, Netherlands [ 6 ] Ctr Consulenza Genet & Teratol Riproduz, Lab Citogenet, Dipartimento Materno Infantile, Catania, Italy [ 7 ] Univ Utah Hlth Sci Ctr, Dept Pediat, Div Med Genet, Salt Lake City, UT USA [ 8 ] Utah Dept Hlth, Utah Birth Defect Network, Salt Lake City, UT 84116 USA [ 9 ] Univ Padua, Dept Pediat, Clin Genet Unit, Padua, Italy [ 10 ] Ctr Dis Control & Prevent, Metropolitan Atlanta Congenital Defects Program, Natl Ctr Birth Defects & Dev Disabil, Atlanta, GA USA [ 11 ] Natl Ctr Healthcare Audit & Inspect, Dept Hungarian Congenital Abnormal Registry & Sur, Budapest, Hungary [ 12 ] Ctr Int Clearinghouse Birth Defects Surveillance, Rome, Italy [ 13 ] Peking Univ Hlth Sci Ctr, Natl Ctr Maternal & Infant Hlth, Beijing, Peoples R China [ 14 ] CEMIC, ECLAMC, Buenos Aires, DF, Argentina [ 15 ] Alberta Hlth & Wellness, Alberta Congenital Anomalies Surveillance Syst, Calgary, AB, Canada [ 16 ] Texas Dept State Hlth Serv, Birth Defects Epidemiol & Surveillance Branch, Austin, TX USA [ 17 ] ISCIII, ECEMC Spanish Collaborat Study Congenital Malform, CIAC, Madrid, Spain [ 18 ] Ctr Biomed Res Rare Dis, CIBERER, Madrid, Spain [ 19 ] Univ Complutense Madrid, Fac Med, Dept Pharmacol, E-28040 Madrid, Spain [ 20 ] Singleton Hosp, CARIS, Swansea SA2 8QA, W Glam, Wales [ 21 ] IFC CNR, Epidemiol Unit, RTDC, Pisa, Italy [ 22 ] THL, Natl Inst Hlth & Welf, Helsinki, Finland [ 23 ] Gen Hosp G Rummo Benevento, Dept Med Genet, Birth Defects Campania Registry, Benevento, Italy [ 24 ] Slovak Med Univ, Slovak Teratol Informat Ctr, Bratislava, Slovakia [ 25 ] Fundacao Oswaldo Cruz, Inst Oswaldo Cruz, ECLAMC, Lab Epidemiol Malformacoes Congenitas, Rio De Janeiro, Brazil (literal)
Titolo
  • Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review (literal)
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 preestablished 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 (literal)
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