Literature DB >> 18696080

Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review.

Kyeong Deok Lee1, Tadaharu Okazaki, Yoshifumi Kato, Geoffrey J Lane, Atsuyuki Yamataka.   

Abstract

CHARGE association and DiGeorge syndrome (DGS) rarely occur together and only eight cases have been reported in the English literature. Two were associated with esophageal atresia (EA) and severe congenital heart anomalies. We report a third case of EA with tracheoesophageal fistula (EA-TEF) associated with coarctation of the aorta (CoA), CHARGE association, and DGS. The challenge for management in this complicated case is the background DGS which influences surgical outcome because of Ca++ imbalance and immune deficiency that can be life-threatening and require bone marrow transplantation.

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Year:  2008        PMID: 18696080     DOI: 10.1007/s00383-008-2222-9

Source DB:  PubMed          Journal:  Pediatr Surg Int        ISSN: 0179-0358            Impact factor:   1.827


  17 in total

1.  CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Authors:  M C J Jongmans; R J Admiraal; K P van der Donk; L E L M Vissers; A F Baas; L Kapusta; J M van Hagen; D Donnai; T J de Ravel; J A Veltman; A Geurts van Kessel; B B A De Vries; H G Brunner; L H Hoefsloot; C M A van Ravenswaaij
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

2.  Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

Authors:  Christiane Zweier; Heinrich Sticht; Inci Aydin-Yaylagül; Christine E Campbell; Anita Rauch
Journal:  Am J Hum Genet       Date:  2007-01-18       Impact factor: 11.025

3.  Stephen L. Gans Distinguished Overseas Lecture. The neural crest in pediatric surgery.

Authors:  Juan A Tovar
Journal:  J Pediatr Surg       Date:  2007-06       Impact factor: 2.545

4.  Who's in CHARGE? Multidisciplinary management of patients with CHARGE association.

Authors:  K D Blake; I M Russell-Eggitt; D W Morgan; J M Ratcliffe; R K Wyse
Journal:  Arch Dis Child       Date:  1990-02       Impact factor: 3.791

5.  Transplantation of thymus tissue in complete DiGeorge syndrome.

Authors:  M L Markert; A Boeck; L P Hale; A L Kloster; T M McLaughlin; M N Batchvarova; D C Douek; R A Koup; D D Kostyu; F E Ward; H E Rice; S M Mahaffey; S E Schiff; R H Buckley; B F Haynes
Journal:  N Engl J Med       Date:  1999-10-14       Impact factor: 91.245

6.  CHARGE and esophageal atresia.

Authors:  M Kutiyanawala; R K Wyse; R J Brereton; L Spitz; E M Kiely; D Drake; K Blake
Journal:  J Pediatr Surg       Date:  1992-05       Impact factor: 2.545

Review 7.  CHARGE syndrome: an update.

Authors:  Damien Sanlaville; Alain Verloes
Journal:  Eur J Hum Genet       Date:  2007-02-14       Impact factor: 4.246

8.  Features of DiGeorge syndrome and CHARGE association in five patients.

Authors:  P de Lonlay-Debeney; V Cormier-Daire; J Amiel; V Abadie; S Odent; A Paupe; S Couderc; A L Tellier; D Bonnet; M Prieur; M Vekemans; A Munnich; S Lyonnet
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

9.  Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.

Authors:  M Louise Markert; Blythe H Devlin; Marilyn J Alexieff; Jie Li; Elizabeth A McCarthy; Stephanie E Gupton; Ivan K Chinn; Laura P Hale; Thomas B Kepler; Min He; Marcella Sarzotti; Michael A Skinner; Henry E Rice; Jeffrey C Hoehner
Journal:  Blood       Date:  2007-02-06       Impact factor: 22.113

10.  Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.

Authors:  R A Pagon; J M Graham; J Zonana; S L Yong
Journal:  J Pediatr       Date:  1981-08       Impact factor: 4.406

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  3 in total

1.  Altered Tbx1 gene expression is associated with abnormal oesophageal development in the adriamycin mouse model of oesophageal atresia/tracheo-oesophageal fistula.

Authors:  Danielle Mc Laughlin; Paula Murphy; Prem Puri
Journal:  Pediatr Surg Int       Date:  2014-02       Impact factor: 1.827

Review 2.  CHARGE syndrome: a review of the immunological aspects.

Authors:  Monica T Y Wong; Elisabeth H Schölvinck; Annechien J A Lambeck; Conny M A van Ravenswaaij-Arts
Journal:  Eur J Hum Genet       Date:  2015-02-18       Impact factor: 4.246

Review 3.  Developmental basis of trachea-esophageal birth defects.

Authors:  Nicole A Edwards; Vered Shacham-Silverberg; Leelah Weitz; Paul S Kingma; Yufeng Shen; James M Wells; Wendy K Chung; Aaron M Zorn
Journal:  Dev Biol       Date:  2021-05-21       Impact factor: 3.582

  3 in total

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