Cunningham M L, Mann N
Department of Pediatrics, University of Washington, Seattle 98195-6320, USA.
Am J Med Genet. 1997 Jun 27;70(4):391-8. doi: 10.1002/(sici)1096-8628(19970627)70:4<391::aid-ajmg11>3.0.co;2-c.
Pulmonary agenesis is a rare malformation that can be isolated or associated with other anomalies. We became interested in pulmonary agenesis after evaluation of a child with right pulmonary agenesis, an unlobed left lung, bilateral cleft lip and palate, maxillary and mandibular hypoplasia, bilateral microtia, bilateral radial ray hypoplasia, horseshoe kidney, and complex congenital heart disease. A review of the occurrence of pulmonary agenesis with other congenital anomalies uncovered a striking association with ipsilateral radial ray defects and/or hemifacial microsomia. The presence of bilateral facial or radial ray anomalies was indicative of bilateral pulmonary involvement. A review of the cases of pulmonary agenesis and associated anomalies at the Children's Hospital and Medical Center confirmed the association of pulmonary agenesis and ipsilateral involvement of face and/or radial ray. The association of pulmonary agenesis and ipsilateral malformations may shed light on its pathogenesis. Although the cause of these associated anomalies remains unclear, abnormalities in the development of the aortic arches during embryogenesis is an attractive hypothesis.
肺不发育是一种罕见的畸形，可为孤立性或与其他异常相关。在评估一名患有右肺不发育、左肺不分叶、双侧唇腭裂、上颌和下颌发育不全、双侧小耳畸形、双侧桡骨射线发育不全、马蹄肾和复杂先天性心脏病的儿童后，我们对肺不发育产生了兴趣。对肺不发育与其他先天性异常并存情况的回顾发现，其与同侧桡骨射线缺陷和/或半侧颜面短小畸形存在显著关联。双侧面部或桡骨射线异常提示双侧肺部受累。对儿童医院和医疗中心的肺不发育及相关异常病例的回顾证实了肺不发育与同侧面部和/或桡骨射线受累之间的关联。肺不发育与同侧畸形之间的关联可能有助于揭示其发病机制。尽管这些相关异常的病因尚不清楚，但胚胎发育过程中主动脉弓发育异常是一个有吸引力的假说。
