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Joubert syndrome. Respiratory failure requiring home mechanical ventilation.

作者信息

Mercado A, Pedraza L, Mayol P M, Rodríguez Santana R, Tejeda C

机构信息

Respiratory Service, San Pablo Medical Center.

出版信息

Bol Asoc Med P R. 1991 Oct;83(10):451-5.

PMID:1789891
Abstract

A case of Joubert's Syndrome with respiratory insufficiency requiring mechanical ventilatory support is presented. The case illustrates the complex clinical, ethical and technical aspects in the management of patients with this syndrome and the feasibility of extending mechanical ventilatory support to the home setting. A caring, knowledgeable care team and a loving supportive family are required to properly continue treatment in the home in cases of this rare syndrome.

摘要

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Bol Asoc Med P R. 1991 Oct;83(10):451-5.
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Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.乔布综合征患儿的睡眠与呼吸以及其他罕见先天性后脑畸形的综述
Ther Adv Respir Dis. 2025 Jan-Dec;19:17534666241308405. doi: 10.1177/17534666241308405.
2
Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review.神经影像学特征作为Joubert综合征及相关疾病的诊断工具:一例病例报告及文献综述
Cureus. 2024 Sep 21;16(9):e69872. doi: 10.7759/cureus.69872. eCollection 2024 Sep.
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Healthcare recommendations for Joubert syndrome.
杰伯综合征的医疗保健建议。
Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11.