Literature DB >> 17879038

A female infant who had both complete VACTERL association and MURCS association: report of a case.

Makoto Komura1, Yutaka Kanamori, Masahiko Sugiyama, Tetsuya Tomonaga, Kan Suzuki, Kouhei Hashizume, Keigo Goishi.   

Abstract

A 41-day-old female infant with VACTERL association was transferred to the pediatric intensive care unit of our hospital. She had been delivered at 36 weeks gestation by spontaneous vaginal delivery and weighed 2340 g. Esophageal atresia type A with long gap, anal atresia, cardiac anomaly (atrial septal defect and patent ductus arteriosus), thoracic vertebral dysplasia, left renal agenesis, and minor anomalies (left-side facial nerve palsy, left-side difficulty in hearing, and the absence of the right thenar) had been diagnosed by various examinations. She was transferred to our hospital to receive treatment for heart failure due to a cardiac anomaly. We recognized vaginal atresia during a radical operation for anal atresia (rectovestibular fistula) at 8 months of age. Furthermore, magnetic resonance imaging (MRI) revealed agenesis of the uterus. MURCS association includes Mullerian duct aplasia or hypoplasia, renal aplasia, and cervicothoracic somite dysplasia. This is the first case of complete VACTERL association combined with MURCS association.

Entities:  

Mesh:

Year:  2007        PMID: 17879038     DOI: 10.1007/s00595-007-3478-8

Source DB:  PubMed          Journal:  Surg Today        ISSN: 0941-1291            Impact factor:   2.549


  9 in total

1.  MURCS association: case report and review.

Authors:  C Braun-Quentin; C Billes; B Böwing; D Kotzot
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Letter: Polycystic ovarian disease and oral contraception.

Authors:  R Corcoran; G D Entwistle
Journal:  Lancet       Date:  1975-06-21       Impact factor: 79.321

3.  A population study of the VACTERL association: evidence for its etiologic heterogeneity.

Authors:  M J Khoury; J F Cordero; F Greenberg; L M James; J D Erickson
Journal:  Pediatrics       Date:  1983-05       Impact factor: 7.124

4.  Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations.

Authors:  Siobhán T Pittock; Dusica Babovic-Vuksanovic; Aida Lteif
Journal:  Am J Med Genet A       Date:  2005-06-15       Impact factor: 2.802

5.  Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway.

Authors:  P C Kim; R Mo; C Hui Cc
Journal:  J Pediatr Surg       Date:  2001-02       Impact factor: 2.545

6.  A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.

Authors:  Anna Biason-Lauber; Daniel Konrad; Francesca Navratil; Eugen J Schoenle
Journal:  N Engl J Med       Date:  2004-08-19       Impact factor: 91.245

7.  The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia.

Authors:  P A Duncan; L R Shapiro; J J Stangel; R M Klein; J C Addonizio
Journal:  J Pediatr       Date:  1979-09       Impact factor: 4.406

8.  VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism?

Authors:  K H Orstavik; J Steen-Johnsen; A Foerster; T Fjeld; K Skullerud; S O Lie
Journal:  Am J Med Genet       Date:  1992-08-01

9.  Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut.

Authors:  D J Roberts; R L Johnson; A C Burke; C E Nelson; B A Morgan; C Tabin
Journal:  Development       Date:  1995-10       Impact factor: 6.868

  9 in total
  3 in total

1.  Müllerian agenesis in the presence of anorectal malformations in female newborns: a diagnostic challenge.

Authors:  Xin Ling Teo; Kannan Laksmi Narasimhan; Joyce Horng Yiing Chua
Journal:  Singapore Med J       Date:  2015-05       Impact factor: 1.858

Review 2.  Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.

Authors:  Thomas Bjørsum-Meyer; Morten Herlin; Niels Qvist; Michael B Petersen
Journal:  J Med Case Rep       Date:  2016-12-21

3.  MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis.

Authors:  Anna Dabkowska-Huc; Piotr Skalba; Antoni Pyrkosz
Journal:  Case Rep Genet       Date:  2013-02-17
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.