Article Text

Download PDFPDF
Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?
  1. S Worthington,
  2. A Colley,
  3. K Fagan,
  4. K Dai,
  5. A H Lipson
  1. Department of Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.


    We report three cases of velocardiofacial syndrome (VCFS) with anal anomalies who have deletions of the 22q11 region and a further case where the proband has VCFS clinically and her father has an anal anomaly. It is important to consider VCFS in the differential diagnosis of children with anal anomalies and to look for other features of the syndrome, such as asymmetrical crying facies, submucous cleft of the palate, developmental delay, cardiac anomalies, and hypoparathyroidism.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.