SEARCH

SEARCH BY CITATION

Keywords:

  • cryptic deletion;
  • 7q36;
  • microdeletion;
  • SHH gene;
  • dysmorphism

Abstract

A patient with a de novo cryptic 7q36.2q36.3 deletion presented with multiple congenital eye abnormalities, short stature and craniofacial dysmorphism, in the absence of intellectual disability. This report further delineates the 7q36 microdeletion syndrome. © 2013 Wiley Periodicals, Inc.