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患有心脏、眼部和肌肉骨骼异常的女婴的囊性纤维化

Cystic Fibrosis in a Female Infant with Cardiac, Ocular, and Musculoskeletal Anomalies.

作者信息

Farooqui Azhar, Eldin Susan Gamal, Ali Muna Dawood, AlTalhi Ali, AlDigheari Ahmad

机构信息

College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.

Department of Pediatrics, Security Forces Hospital, Riyadh 12625, Saudi Arabia.

出版信息

Case Rep Pediatr. 2015;2015:379018. doi: 10.1155/2015/379018. Epub 2015 Nov 29.

Abstract

Cystic fibrosis (CF) remains the most common hereditary disease in the western population. Its concomitant presence with other congenital abnormalities is a rare phenomenon with very little documentation. In this case report we describe a case of cystic fibrosis in a female infant with cardiac, ocular, and musculoskeletal abnormalities. A brief literature review is also provided.

摘要

囊性纤维化(CF)仍是西方人群中最常见的遗传性疾病。它与其他先天性异常同时存在是一种罕见现象,相关文献记载极少。在本病例报告中,我们描述了一名患有心脏、眼部和肌肉骨骼异常的女婴的囊性纤维化病例。同时还提供了简要的文献综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41cd/4677024/ebcb7a041fd1/CRIPE2015-379018.001.jpg

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