๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

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

โœ Scribed by Gripp, Karen W.; McDonald-McGinn, Donna M.; Driscoll, Deborah A.; Reed, Lori A.; Emanuel, Beverly S.; Zackai, Elaine H.


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
401 KB
Volume
69
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

โœฆ Synopsis


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. Am.


๐Ÿ“œ SIMILAR VOLUMES


PRENATAL DIAGNOSIS OF THE 22q11 DELETION
โœ ALEXANDER DAVIDSON; MEENA KHANDELWAL; HOPE H. PUNNETT ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 210 KB ๐Ÿ‘ 1 views

A 27 weeks' gestation fetus, evaluated because of polyhydramnios, was found by echocardiography to have an interrupted aortic arch type B. Because of the known association between this malformation and DiGeorge syndrome, an amniocentesis was performed. Fluorescence in situ hybridization revealed a 2

Opitz GBBB syndrome and the 22q11.2 dele
โœ Lacassie, Yves; Arriaza, Marta I. ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 2 KB ๐Ÿ‘ 2 views

Letter to the Editor ## Opitz GBBB Syndrome and the 22q11.2 Deletion To the Editor: Recently, McDonald-McGinn et al. [1995] reported the presence of a deletion 22q11.2 in a family with autosomal dominant inheritance and in a sporadic case with the Opitz GBBB syndrome.The presence of a vascular r