Literature DB >> 16801960

Caudal regression sequence: vascular origin?

J Hentschel1, E Stierkorb, G Schneider, S Goedde, S Siemer, L Gortner.   

Abstract

Caudal regression sequence (CRS) is a rare congenital defect of the lower spinal segments and the neural tube. Motor symptoms as well as neurological deficits and loss of bladder and bowel function are usually present. CRS is also associated with anomalies in other systems such as the gastrointestinal and genitourinary tract. Etiology and pathogenesis are poorly understood.A newborn presented with anomalies of the spinal column (lumbosacral) with absence/hypoplasia of the 12th thoracic and first lumbar vertebral anomaly body. Bladder and bowel initially were functional. MR-angiography exhibited an anomaly of the unpaired vessels originating from the aorta, a likely relict of a persisting vitelline artery. These findings indicate a potential vascular genesis of CRS, much as in sirenomelia.

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Mesh:

Year:  2006        PMID: 16801960     DOI: 10.1038/sj.jp.7211534

Source DB:  PubMed          Journal:  J Perinatol        ISSN: 0743-8346            Impact factor:   2.521


  5 in total

Review 1.  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

2.  Sirenomelia: two cases in Cali, Colombia.

Authors:  Wilmar Saldarriaga; Maria Jimena Salcedo-Arellano; Julian Ramirez-Cheyne
Journal:  BMJ Case Rep       Date:  2015-01-30

3.  Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report.

Authors:  Hilal Al Hashami; Maria F Bataclan; Mariam Mathew; Lalitha Krishnan
Journal:  Sultan Qaboos Univ Med J       Date:  2010-04-17

4.  Solitary intercostal arterial trunk: a previously unreported anatomical variant.

Authors:  John Chang; Geoffrey D Rubin
Journal:  Circ Cardiovasc Imaging       Date:  2009-11       Impact factor: 7.792

5.  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

  5 in total

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