Nasal dimple as part of the 22q11.2 deletion syndrome.
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.
Gripp
K W
KW
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
McDonald-McGinn
D M
DM
Driscoll
D A
DA
Reed
L A
LA
Emanuel
B S
BS
Zackai
E H
EH
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome