PDF(Pubmed)
Abstract：
Congenital nasal pyriform aperture stenosis (CNPAS) is a rare neonatal entity characterized by a reduction in the pyriform orifice of the nasal cavity. Because of its nonspecific clinical presentation as respiratory distress symptoms, it can mimic choanal atresia. Although isolated forms have been described, CNPAS is often associated with other congenital midline malformations. A single median incisor is usually found, with or without other cervical and maxillofacial malformations. The existence of hypothalamic-pituitary axis malformations with endocrine disorders is also possible and, in some cases, a moderate to severe intellectual deficit in association with other brain malformations. Radiological investigation is a central point in the multidisciplinary management of this type of polymalformative syndrome.
摘要：
先天性鼻梨形孔狭窄（CNPAS）是一种罕见的新生儿实体，其特征是鼻腔的梨形孔减少。由于其非特异性临床表现为呼吸窘迫症状，它可以模仿后鼻孔闭锁。虽然已经描述了孤立的形式，CNPAS通常与其他先天性中线畸形有关。通常发现单个正中门牙，有或没有其他颈颌面部畸形。下丘脑-垂体轴畸形与内分泌紊乱的存在也是可能的，在某些情况下,与其他大脑畸形有关的中度至重度智力缺陷。放射学调查是这种多畸形综合征的多学科管理的中心点。
