Literature DB >> 9096759

Nasal dimple as part of the 22q11.2 deletion syndrome.

K W Gripp1, D M McDonald-McGinn, D A Driscoll, L A Reed, B S Emanuel, E H Zackai.   

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.

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Mesh:

Year:  1997        PMID: 9096759

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Nasal Dimple as a Rare Phenotype of Digeroge Syndrome: Revisited.

Authors:  Ankur Singh; Deep Shikha; Rajniti Prasad; Om Prakash Mishra
Journal:  Indian J Pediatr       Date:  2017-09-19       Impact factor: 1.967

Review 2.  Phenotype of adults with the 22q11 deletion syndrome: A review.

Authors:  E Cohen; E W Chow; R Weksberg; A S Bassett
Journal:  Am J Med Genet       Date:  1999-10-08
  2 in total

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