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一例唇腭裂合并塞克尔综合征的病例。

A case of cleft lip and palate associated with Seckel syndrome.

作者信息

Murthy Jyotsna, Seshadri Krishna G, Ramanan Padmasani Venkat, Rajamani Arvind, Hussain Altaf

机构信息

Sri Ramachandra Medical College and Research Institute (DU), Chennai, India.

出版信息

Cleft Palate Craniofac J. 2004 Mar;41(2):202-5. doi: 10.1597/02-087.

Abstract

We report an unusual association of complete cleft of the primary and secondary palate with Seckel syndrome. Seckel syndrome is a very rare syndrome, with only 60 reported cases in the medical literature. It is an autosomal recessive disorder characterized by birdlike face, intrauterine growth retardation, dwarfism, and microcephaly. This young child of 5 years had a successful cleft lip repair under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed.

摘要

我们报告了一例原发性和继发性腭裂完全裂开与塞克尔综合征的罕见关联。塞克尔综合征是一种非常罕见的综合征,医学文献中仅报道了60例。它是一种常染色体隐性疾病,其特征为鸟样面容、宫内生长迟缓、侏儒症和小头畸形。这名5岁幼儿在全身麻醉下成功进行了唇裂修复。文中讨论了该综合征的主要特征以及麻醉和手术中的技术问题。

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