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The deletion 9p syndrome. A 61-year-old man with deletion of short arm 9

✍ Scribed by J. Nielsen; A. Homma; F. Christiansen; K. Rasmussen; P. Saldaña-Garcia

Book ID
119838492
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
290 KB
Volume
12
Category
Article
ISSN
0009-9163

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We report on a child with choanal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with del(9p). Choanal atresia may be part of the spectrum of malformations in the deletion (9p) syndrome and its presence should prompt a search for

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The deletion 9p syndrome is a well-recognized entity, with about 100 reported cases. Characteristic findings include trigonocephaly, upslanting palpebral fissures, epicanthal folds, anteverted nares, long philtrum, posteriorly angulated and poorly formed ears, excess of whorls on the fingers, and me