Choanal atresia in a patient with the deletion (9p) syndrome

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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Bibliographic Details
Published in:	American journal of medical genetics Vol. 49; no. 1; p. 88
Main Authors:	Shashi, V, Golden, W L, Fryburg, J S
Format:	Journal Article
Language:	English
Published:	United States 01-01-1994
Subjects:	Abnormalities, Multiple - genetics Blepharoptosis - genetics Child, Preschool Choanal Atresia - genetics Chromosome Aberrations - genetics Chromosome Aberrations - pathology Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 9 Female Frontal Bone - abnormalities Humans Intellectual Disability - genetics
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Summary:	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 this particular deletion as part of the differential diagnosis.
ISSN:	0148-7299
DOI:	10.1002/ajmg.1320490116