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 this particular deletion as part of the differential diagnosis.
Shashi
V
V
Department of Pediatrics, University of Virginia, Charlottesville.
Golden
W L
WL
Fryburg
J S
JS
D000015:Abnormalities, Multiple / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002675:Child, Preschool; D002754:Choanal Atresia / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*