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安特利-比克斯勒综合征:一例病例报告及讨论

Antley-Bixler syndrome: a case report and discussion.

作者信息

LeBard S E, Thiemann L J

机构信息

Department of Anesthesiology, Mayo Clinic, Rochester, Minnesota 55905, USA.

出版信息

Paediatr Anaesth. 1998;8(1):89-91. doi: 10.1046/j.1460-9592.1998.00710.x.

Abstract

Antley-Bixler Syndrome (ABS) is an autosomal recessive trait disorder characterized by multiple bone and cartilaginous abnormalities. Primary features include significant craniosynostosis, midface hypoplasia with choanal stenosis or atresia, femoral bowing, radiohumeral synostosis, and multiple joint contractures. Cardiac, renal, and gastrointestinal malformations have also been described. This report describes the management of a four-month-old male who underwent cranial vault remodeling to relieve craniosynostosis and discusses the potential concerns of the anaesthetist during care of children with Antley-Bixler Syndrome.

摘要

安特利-比克斯勒综合征(ABS)是一种常染色体隐性遗传性疾病,其特征为多处骨骼和软骨异常。主要特征包括明显的颅缝早闭、伴有后鼻孔狭窄或闭锁的面中部发育不全、股骨弓形、桡肱关节融合以及多处关节挛缩。也有心脏、肾脏和胃肠道畸形的相关报道。本报告描述了一名4个月大男性接受颅盖重塑以缓解颅缝早闭的治疗过程,并讨论了麻醉师在照顾安特利-比克斯勒综合征患儿时可能关注的问题。

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