Lloyd Isaac E, Rowe Leslie R, Erickson Lance K, Paxton Christian N, South Sarah T, Alashari Mouied
1 Department of Pathology, University of Utah, 15 North Medical Drive East, Suite #1100, Salt Lake City, UT 84112, USA.
Pediatr Dev Pathol. 2014 Sep-Oct;17(5):360-5. doi: 10.2350/14-04-1474-CR.1. Epub 2014 Jun 19.
Scimitar syndrome is a congenital anomaly occurring in approximately 1/50,000 births, consisting of partial anomalous pulmonary venous return, right lung hypoplasia, and several associated defects. The condition generally has significant morbidity and mortality, but the underlying cause is poorly understood. In this report, we describe 2 autopsy cases of Scimitar syndrome associated with multiple skeletal anomalies and attempt to characterize possible genetic abnormalities in this condition. In light of these findings, we discuss the embryology and direct timing during development of the anomalies associated with this syndrome.
弯刀综合征是一种先天性异常，约每50000例出生中出现1例，包括部分肺静脉异位引流、右肺发育不全以及一些相关缺陷。该病症通常具有较高的发病率和死亡率，但其潜在病因尚不清楚。在本报告中，我们描述了2例与多种骨骼异常相关的弯刀综合征尸检病例，并试图确定该病症可能存在的基因异常。鉴于这些发现，我们讨论了与该综合征相关的异常发育过程中的胚胎学及直接发生时间。
