Shashi V, Golden W L, Fryburg J S
Department of Pediatrics, University of Virginia, Charlottesville.
Am J Med Genet. 1994 Jan 1;49(1):88-90. doi: 10.1002/ajmg.1320490116.
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.
我们报告了一名患有后鼻孔闭锁和9p缺失的儿童。文献回顾记录了之前1例患有9p缺失的患者出现后鼻孔闭锁的情况。后鼻孔闭锁可能是9p缺失综合征畸形谱的一部分,其出现应促使在鉴别诊断中寻找这一特定缺失。