Literature DB >> 17131146

A child with chromosome 22q11.2 deletion syndrome and a bilobed gallbladder.

James R Clarke1, Matthias H Schmidt, Marian B Macken, Charlotte Morley, Elizabeth A Cummings.   

Abstract

We present an 11-year-old girl with a chromosome 22q11.2 microdeletion, velocardiofacial syndrome (VCFS), and a bilobed gallbladder as an incidental finding on abdominal sonography. The finding was confirmed by magnetic resonance cholangiopancreatography (MRCP). This is the first report of a gallbladder anomaly associated with a chromosome 22q11.2 deletion and the second report of a biliary tract anomaly associated with a mutation in the chromosome 22q11 region. We suggest that close attention be paid to the anatomy of the biliary tree in patients with mutations in the chromosome 22q11 region. Further study is warranted to determine the range and prevalence of biliary tract anomalies in this population.

Entities:  

Mesh:

Year:  2006        PMID: 17131146     DOI: 10.1007/s00247-006-0357-1

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  6 in total

1.  Choledochal cysts: age of presentation, symptoms, and late complications related to Todani's classification.

Authors:  J S de Vries; S de Vries; D C Aronson; D K Bosman; E A J Rauws; A Bosma; H A Heij; D J Gouma; T M van Gulik
Journal:  J Pediatr Surg       Date:  2002-11       Impact factor: 2.545

2.  Sonography of gallbladder duplication and differential considerations.

Authors:  R C Goiney; S A Schoenecker; D R Cyr; W P Shuman; M J Peters; P L Cooperberg
Journal:  AJR Am J Roentgenol       Date:  1985-08       Impact factor: 3.959

3.  A new case of a severe clinical phenotype of the cat-eye syndrome.

Authors:  T Martin Denavit; V Malan; C Grillon; D Sanlaville; A Ardalan; M L Jacquemont; L Burglen; J L Taillemite; M F Portnoi
Journal:  Genet Couns       Date:  2004

Review 4.  Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician.

Authors:  J A Thomas; J M Graham
Journal:  Clin Pediatr (Phila)       Date:  1997-05       Impact factor: 1.168

Review 5.  Laparoscopic treatment of gallbladder duplication. A plea for removal of both gallbladders.

Authors:  J Gigot; B Van Beers; L Goncette; J Etienne; A Collard; P Jadoul; A Therasse; J B Otte; P Kestens
Journal:  Surg Endosc       Date:  1997-05       Impact factor: 4.584

Review 6.  Genomic disorders on 22q11.

Authors:  Heather E McDermid; Bernice E Morrow
Journal:  Am J Hum Genet       Date:  2002-03-29       Impact factor: 11.025

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.