Literature DB >> 23526679

Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature.

Martin Lhuaire1, Agnès Jestin, Camille Boulagnon, Mélanie Loock, Martine Doco-Fenzy, Dominique Gaillard, Marie-Danièle Diebold, Claude Avisse, Marc Labrousse.   

Abstract

Sirenomelia or "mermaid syndrome" is a rare congenital anomaly known since antiquity. This congenital anomaly is defined as a polymalformative syndrome that associates major muscle and skeleton abnormalities (unique lower limbs) with visceral abnormalities (unilateral or bilateral renal agenesis, anomalies of the abdominal vascularisation). This phenotype, typical of sirenomelia syndrome, may be more or less severe. The pathogenic mechanisms of this syndrome are still debated and its etiology remains unknown. We report here a new type of sirenomelia that we observed in a fetus belonging to the collection of the Department of Anatomy of Reims, which led us to perform a comprehensive review of the literature on the subject: this type has never been reported and cannot be classified according to the Stocker and Heifetz classification. Moreover, this case also presents a VACTERL association with Thomas syndrome.
Copyright © 2013 Wiley Periodicals, Inc.

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Year:  2013        PMID: 23526679     DOI: 10.1002/bdra.23125

Source DB:  PubMed          Journal:  Birth Defects Res A Clin Mol Teratol        ISSN: 1542-0752


  3 in total

1.  Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital.

Authors:  Kwannapas Nokeaingtong; Sirirat Kaewchai; Pannee Visrutaratna; Varangthip Khuwuthyakorn
Journal:  BMJ Case Rep       Date:  2015-05-14

2.  Sirenomelia and severe caudal regression syndrome.

Authors:  Mohammed Z Seidahmed; Omer B Abdelbasit; Khalid A Alhussein; Abeer M Miqdad; Mohammed I Khalil; Mustafa A Salih
Journal:  Saudi Med J       Date:  2014-12       Impact factor: 1.484

3.  NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

Authors:  Paul R Mark
Journal:  Am J Med Genet A       Date:  2022-04-29       Impact factor: 2.578

  3 in total

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