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Nasal dimple as part of the 22q11.2 deletion syndrome
K W Gripp1, D M McDonald-McGinn, D A Driscoll
1Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
American Journal of Medical Genetics
|March 31, 1997
Abstract:
The phenotype of the 22q11.2 microdeletion syndrome is quite variable. We describe 2 patients with a 22q11.2 deletion and a dimpled nasal tip, which, we suggest can be the extreme of the broad or bulbous nose commonly found in the 22q11.2 deletion syndrome, and should not be confused with the more severe nasal abnormalities seen in frontonasal dysplasia.