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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.

DOI:10.1046/j.1460-9592.1998.00710.x
PMID:9483606
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。

相似文献

1
Antley-Bixler syndrome: a case report and discussion.安特利-比克斯勒综合征:一例病例报告及讨论
Paediatr Anaesth. 1998;8(1):89-91. doi: 10.1046/j.1460-9592.1998.00710.x.
2
Antley-Bixler syndrome, description of two new cases and review of the literature.安特利-比克斯勒综合征:两例新病例描述及文献综述
Pediatr Neurosurg. 2001 Jan;34(1):33-9. doi: 10.1159/000055989.
3
The Antley-Bixler syndrome. A new case without radiohumeral synostosis.
Genet Couns. 1998;9(2):113-8.
4
[Antley-Bixler syndrome. Description of two new cases and review of the literature. Prognostic and therapeutic aspects].[安特利-比克斯勒综合征。两例新病例描述及文献综述。预后与治疗方面]
Ann Chir Plast Esthet. 1997 Feb;42(1):48-55.
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Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature.从预后角度看安特利-比克斯勒综合征:一例报告及文献复习
Am J Med Genet. 1988 Apr;29(4):829-36. doi: 10.1002/ajmg.1320290412.
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Antley-Bixler syndrome. Description of two new cases and a review of the literature.安特利-比克斯勒综合征。两例新病例描述及文献综述。
Childs Nerv Syst. 1997 May;13(5):275-80; discussion 281. doi: 10.1007/s003810050082.
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Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture.安特利-比克斯勒综合征:一种以肘关节和颅骨缝先天性融合为特征的疾病。
J Pediatr Orthop. 1996 Mar-Apr;16(2):243-6. doi: 10.1097/00004694-199603000-00021.
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Anesthetic risks associated with Antley-Bixler syndrome.与安特利-比克斯勒综合征相关的麻醉风险。
J Craniofac Surg. 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f.
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The Antley-Bixler syndrome.安特利-比克斯勒综合征
J Pediatr. 1982 Aug;101(2):201-5. doi: 10.1016/s0022-3476(82)80117-0.
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The Antley-Bixler syndrome: two new cases.安特利-比克斯勒综合征:两例新病例。
J Postgrad Med. 2001 Oct-Dec;47(4):252-5.

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