Literature DB >> 9623406

Oesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies.

Y Perel1, O Butenandt, A Carrere, R Saura, M Fayon, T Lamireau, P Vergnes.   

Abstract

Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi's anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi's anaemia may have important genetic and therapeutic implications.

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Mesh：

Year:  1998        PMID： 9623406      PMCID： PMC1717521          DOI： 10.1136/adc.78.4.375

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?

Authors:  M E Porteous; I Cross; J Burn
Journal:  Am J Med Genet       Date:  1992-08-01

2.  The epidemiology of tracheo-oesophageal fistula and oesophageal atresia in Europe. EUROCAT Working Group.

Authors:  A Depaepe; H Dolk; M F Lechat
Journal:  Arch Dis Child       Date:  1993-06       Impact factor: 3.791

Review 3.  Fanconi anemia and novel strategies for therapy.

Authors:  J M Liu; M Buchwald; C E Walsh; N S Young
Journal:  Blood       Date:  1994-12-15       Impact factor: 22.113

4.  Bone marrow transplantation for Fanconi anemia.

Authors:  E Gluckman; A D Auerbach; M M Horowitz; K A Sobocinski; R C Ash; M M Bortin; A Butturini; B M Camitta; R E Champlin; W Friedrich; R A Good; E C Gordon-Smith; R E Harris; J P Klein; J J Ortega; R Pasquini; N K Ramsay; B Speck; M R Vowels; M J Zhang; R P Gale
Journal:  Blood       Date:  1995-10-01       Impact factor: 22.113

5.  The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.

Authors:  P F Giampietro; B Adler-Brecher; P C Verlander; S G Pavlakis; J G Davis; A D Auerbach
Journal:  Pediatrics       Date:  1993-06       Impact factor: 7.124

6.  Analysis of morbidity and mortality in 227 cases of esophageal atresia and/or tracheoesophageal fistula over two decades.

Authors:  S A Engum; J L Grosfeld; K W West; F J Rescorla; L R Scherer
Journal:  Arch Surg       Date:  1995-05
  6 in total
  5 in total

1.  Genetic Testing in a Cohort of Complex Esophageal Atresia.

Authors:  Eliane Beauregard-Lacroix; Jessica Tardif; Emmanuelle Lemyre; Zoha Kibar; Christophe Faure; Philippe M Campeau
Journal:  Mol Syndromol       Date:  2017-06-16

2.  Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia.

Authors:  A Serra; K Eirich; A K Winkler; K Mrasek; G Göhring; G Barbi; H Cario; B Schlegelberger; B Pokora; T Liehr; C Leriche; D Henne-Bruns; T F Barth; D Schindler
Journal:  Mol Syndromol       Date:  2012-08-23

3.  Fanconi anaemia with bilateral diffuse pulmonary arterio venous fistulae: a case report.

Authors:  Lasitha Samarakoon; Nuwan Ranawaka; Chaturaka Rodrigo; Godwin R Constantine; Lalindra Goonarathne
Journal:  BMC Blood Disord       Date:  2012-03-17

Review 4.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738

5.  Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas.

Authors:  Erwin Brosens; Janine F Felix; Anne Boerema-de Munck; Elisabeth M de Jong; Elisabeth M Lodder; Sigrid Swagemakers; Marjon Buscop-van Kempen; Ronald R de Krijger; Rene M H Wijnen; Wilfred F J van IJcken; Peter van der Spek; Annelies de Klein; Dick Tibboel; Robbert J Rottier
Journal:  PLoS One       Date:  2020-11-17       Impact factor: 3.240
  5 in total

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