Article

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

Department of Radiology, Dalhousie University, Halifax, Nova Scotia, Canada.
Pediatric Radiology (impact factor: 1.67). 03/2007; 37(2):213-5. DOI:10.1007/s00247-006-0357-1 pp.213-5
Source: PubMed

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.

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Keywords

11-year-old girl
 
abdominal sonography
 
biliary tract anomalies
 
biliary tract anomaly
 
biliary tree
 
chromosome 22q11 region
 
gallbladder anomaly
 
magnetic resonance cholangiopancreatography
 
patients
 
prevalence
 
second report
 
velocardiofacial syndrome