Literature DB >> 1552541

The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

B Källén1, E E Castilla, P A Lancaster, O Mutchinick, L B Knudsen, M L Martínez-Frías, P Mastroiacovo, E Robert.   

Abstract

Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is somewhat increased for cyclopia, indicating the likely inclusion of some chromosomally abnormal infants which were not identified. About half of the infants are stillborn. There is a female excess among infants with cyclopia. Excess twinning occurred for cyclopia and possibly also for sirenomelia. An analysis of associated malformations indicates the similarity between the two conditions, which is in agreement with recent embryological analysis.

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Year:  1992        PMID: 1552541      PMCID: PMC1015818          DOI: 10.1136/jmg.29.1.30

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  19 in total

1.  An epidemiologist's journey from typhus to thalidomide, and from the Soviet Union to Seveso.

Authors:  Marcus Klingberg
Journal:  J R Soc Med       Date:  2010-10       Impact factor: 5.344

Review 2.  Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Authors:  Iêda M Orioli; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Fabrizio Bianchi; Mark A Canfield; Maurizio Clementi; Adolfo Correa; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-17       Impact factor: 3.908

Review 3.  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; Emmanuelle Amar; Jazmin Arteaga-Vazquez; Marian K Bakker; Sebastiano Bianca; Lorenzo D Botto; Maurizio Clementi; Adolfo Correa; Melinda Csaky-Szunyogh; Emanuele Leoncini; Zhu Li; Jorge S López-Camelo; R Brian Lowry; Lisa Marengo; María-Luisa Martínez-Frías; Pierpaolo Mastroiacovo; Margery Morgan; Anna Pierini; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

Review 4.  Craniopagus parasiticus: successful separation of a 28-week preterm newborn from parasite sibling twin bearing lethal congenital anomalies associated to Cantrell's pentad and sirenomelia-case-based review of the literature.

Authors:  Adrian Caceres; Juan Luis Segura-Masis; Ariadnna Caceres-Alan; Francisco Gutierrez-Duran; Justiniano Zamora-Chaves; Juan Luis Segura-Valverde
Journal:  Childs Nerv Syst       Date:  2021-05-01       Impact factor: 1.475

5.  Cyclopia syndrome.

Authors:  Deepak Sharma; Jaivinder Yadav; Eva Garg
Journal:  BMJ Case Rep       Date:  2014-06-09

6.  A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate.

Authors:  H Li; C Tierney; L Wen; J Y Wu; Y Rao
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7.  Mermaid syndrome: virtually no hope for survival.

Authors:  Nicolas Lutz; Blaise Julien Meyrat; Jean-Pierre Guignard; Judith Hohlfeld
Journal:  Pediatr Surg Int       Date:  2004-06-19       Impact factor: 1.827

8.  Sirenomelia with radial dysplasia.

Authors:  M L Kulkarni; K M Abdul Manaf; D G Prasannakumar; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2004-05       Impact factor: 1.967

9.  Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.

Authors:  Carlos Garrido-Allepuz; Domingo González-Lamuño; Maria A Ros
Journal:  PLoS One       Date:  2012-09-17       Impact factor: 3.240

10.  Reduced BMP signaling results in hindlimb fusion with lethal pelvic/urogenital organ aplasia: a new mouse model of sirenomelia.

Authors:  Kentaro Suzuki; Yasuha Adachi; Tomokazu Numata; Shoko Nakada; Motoko Yanagita; Naomi Nakagata; Sylvia M Evans; Daniel Graf; Aris Economides; Ryuma Haraguchi; Anne M Moon; Gen Yamada
Journal:  PLoS One       Date:  2012-09-17       Impact factor: 3.240

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