Hall B D
J Pediatr. 1979 Sep;95(3):395-8. doi: 10.1016/s0022-3476(79)80513-2.
Seventeen unrelated patients with multiple anomalies of unknown etiology were identified by the presence of choanal atresia. A regularly recurring pattern of associated features involving mental retardation, postnatal growth deficiency, hypogenitalism (males), small ears, cardiac defects, micrognathia, postnatal microcephaly, and ocular coloboma was identified. Choanal atresia when accompanied by multiple anomalies of unknown etiology has a serious prognosis with a predictable pattern of associated defects.
通过后鼻孔闭锁的存在确定了17例病因不明的多发畸形无关患者。发现了一种经常出现的相关特征模式,包括智力发育迟缓、出生后生长发育不足、生殖器发育不全(男性)、小耳、心脏缺陷、小颌畸形、出生后小头畸形和眼裂。当后鼻孔闭锁伴有病因不明的多发畸形时,预后严重,伴有可预测的相关缺陷模式。