Severe hearing loss in pallister-killian syndrome.

Schuster M; Hoppe U; Eysholdt U; Rosanowski F

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Severe hearing loss in pallister-killian syndrome.

机译：pallister-killian综合征严重的听力损失。

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Pallister-Killian syndrome is a rare disorder characterised by a specific combination of anatomic anomalies, mental retardation and lack of speech acquisition due to tetrasomy 12p. Hearing loss does not seem to be characteristic for this syndrome, although it was reported in several cases. We present the case of a girl first seen in our department at the age of 6 months. A severe sensory hearing loss was confirmed by subjective and objective audiometry. The child was successfully equipped with hearing aids. In the literature almost all children with Pallister-Killian syndrome are described as not developing verbal speech. Surprisingly their hearing abilities were not examined systematically. We advise audiological testing of children with Pallister-Killian syndrome.

机译：Pallister-Killian综合征是一种罕见的疾病，其特征是解剖异常，智力低下和由于12p四体性而缺乏言语获取的特定组合。听力丧失似乎不是该综合征的特征，尽管有几例报道。我们介绍了一个在6个月大时首次在我们部门见过的女孩的案例。主观和客观测听证实严重的感觉性听力损失。这个孩子成功地配备了助听器。在文献中，几乎所有患有Pallister-Killian综合征的儿童都被描述为没有言语能力。令人惊讶的是，他们没有系统地检查他们的听力。我们建议对Pallister-Killian综合征儿童进行听力检查。

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来源
《ORL: Journal for oto-rhino-laryngology and its borderlands》 |2002年第5期|共3页
作者
Schuster M; Hoppe U; Eysholdt U; Rosanowski F;
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正文语种 eng
中图分类耳鼻咽喉科学;
关键词
Tetrasomy 12p; Syndrome; Deafness; Child; 综合征; 聋; 儿童;

机译：Tetrasomy 12p;Syndrome;Deafness;Child;综合征;聋;儿童;

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1. Severe hearing loss in pallister-killian syndrome. [J] . Schuster M, Hoppe U, Eysholdt U, ORL: Journal for oto-rhino-laryngology and its borderlands . 2002,第5期

机译：pallister-killian综合征严重的听力损失。
2. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. [J] . Liburd N, Ghosh M, Riazuddin S, Human Genetics . 2001,第5期

机译：MYO15A的新突变与史密斯-马格尼斯综合征患者的近亲耳聋和中度重度听力下降有关。
3. Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation [J] . Shaoying Tang, Tomoko Yonezawa, Yukihide Maeda, PLoS One . 2021,第4期

机译：小鼠中缺乏胶原蛋白α6（iv）链不会造成严重致力于深刻的听力损失或耳蜗畸形，从COL4A6畸变突变中没有非yndromic听力丧失的明显表型
4. A New Hearing Aid Fitting Strategy for Severe to Profound Hearing Loss [C] . Herzke Tobias, Haumann Sabine, Hohmann Volker Proceedings of Speech Communication; 10. ITG Symposium. . 2012

机译：重度严重失聪的新型助听器适配策略
5. No, I Cannot Hear You: The Impact of Disability on Professional Identity Development of a Psychology Doctoral Candidate with Severe to Profound Hearing Loss. [D] . Donohue, Colleen. 2016

机译：不，我听不到您的话：残疾对严重失聪的心理学博士候选人的专业身份发展的影响。
6. Relationship Between Age of Hearing-Loss Onset Hearing-Loss Duration and Speech Recognition in Individuals with Severe-to-Profound High-Frequency Hearing Loss [O] . Fabien Seldran, Stéphane Gallego, Christophe Micheyl, 2011

机译：重度至深层高频听力损失患者的听力损失年龄听力损失持续时间和语音识别之间的关系
7. Relationship Between Age of Hearing-Loss Onset, Hearing-Loss Duration, and Speech Recognition in Individuals with Severe-to-Profound High-Frequency Hearing Loss [O] . Fabien Seldran, Stéphane Gallego, Christophe Micheyl, 2011

机译：具有严重致敬的高频听力损失的个人听力损失的关系，听力损失持续时间和语音识别

Severe hearing loss in pallister-killian syndrome.

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