伴有内脏异位和食管闭锁的埃斯科瓦尔综合征：病例报告
Escobar syndrome with heterotaxia and esophageal atresia: case report.
作者信息
Martínez-Barrera L E, Morán-Barroso V F, Perezpeña-Díazconti M, Zuñiga-Rodríguez F G, Manzano-Sierra C, García-Delgado C
出版信息
Genet Couns. 2014;25(3):321-30.
Escobar syndrome (ES) or multiple pterygia syndrome (MIM#265000) is an infrequent condition characterized by facial dysmorphism, multiple webbing (pterygia), congenital contractures (arthrogryposis) and other internal anomalies. We describe an 8-days-old male newborn from consanguineous parents with ES who also presented heterotaxia syndrome and esophageal atresia, anomalies that not have been previously reported as associated to ES.
埃斯科瓦尔综合征（ES）或多发性翼状胬肉综合征（MIM#265000）是一种罕见病症，其特征为面部畸形、多处蹼状粘连（翼状胬肉）、先天性挛缩（关节弯曲）以及其他内部异常。我们描述了一名来自近亲结婚父母的8日龄男性新生儿，患有埃斯科瓦尔综合征，同时还伴有内脏反位综合征和食管闭锁，这些异常情况此前尚未被报道与埃斯科瓦尔综合征相关。
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