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Vertebral defects as an unusual mode of presentation of 22q11.2 deletion

โœ Scribed by L. Faivre; A. Masurel-Paulet; P. Callier; N. Mejean; S. Gay; M. Grimaldi; F. Mugneret; F. Huet; C. Thauvin-Robinet


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
83 KB
Volume
149A
Category
Article
ISSN
1552-4825

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Nasal dimple as part of the 22q11.2 dele
โœ Gripp, Karen W.; McDonald-McGinn, Donna M.; Driscoll, Deborah A.; Reed, Lori A.; ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 401 KB ๐Ÿ‘ 2 views

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 s