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劳伦斯-穆恩-巴德-比德尔综合征的耳鼻喉科特征。

Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome.

作者信息

Urben S L, Baugh R F

机构信息

Department of Otolaryngology-Head and Neck Surgery, Henry Ford Health System, Detroit, MI 48202-2689, USA.

出版信息

Otolaryngol Head Neck Surg. 1999 Apr;120(4):571-4. doi: 10.1053/hn.1999.v120.a83517.

DOI:10.1053/hn.1999.v120.a83517
PMID:10187963
Abstract

The most common otolaryngologic features associated with LMBBS include SNHL, speech and language disorders, and oral and dental abnormalities. Early otolaryngologic, audiologic, speech pathology, and dental evaluation of these individuals is recommended. This is the first reported case of bifid epiglottis, a rare congenital laryngeal anomaly, found in association with LMBBS. Most patients with bifid epiglottis have additional congenital anomalies, most commonly polysyndactyly. Polysyndactyly is a feature of both LMBBS and bifid epiglottis and may be an early hallmark for the presence of other congenital anomalies.

摘要

与肢体-面-骨综合征(LMBBS)相关的最常见耳鼻喉科特征包括感音神经性听力损失(SNHL)、言语和语言障碍以及口腔和牙齿异常。建议对这些个体进行早期耳鼻喉科、听力学、言语病理学和牙科评估。这是首次报告的一例与LMBBS相关的罕见先天性喉部异常——会厌裂。大多数会厌裂患者有其他先天性异常,最常见的是多指(趾)畸形。多指(趾)畸形是LMBBS和会厌裂的共同特征,可能是存在其他先天性异常的早期标志。

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引用本文的文献

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Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature.以会厌裂为表现的巴德-比德尔综合征:一例报告及文献复习
Cureus. 2023 Apr 19;15(4):e37849. doi: 10.7759/cureus.37849. eCollection 2023 Apr.
2
Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.Bardet-Biedl 综合征表现为喉蹼和分叉的会厌。
BMJ Case Rep. 2021 Jan 28;14(1):e236325. doi: 10.1136/bcr-2020-236325.
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Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.
巴德-比德尔综合征的口腔和颅面异常:罕见病背景下的牙科治疗
J Dent Res. 2017 Nov;96(12):1361-1369. doi: 10.1177/0022034517716913. Epub 2017 Jun 29.
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Anesthetic management of a child with Bardet-Biedl syndrome undergoing post-auricular dermoid excision.一名患有巴德-比德尔综合征的儿童接受耳后皮样囊肿切除手术的麻醉管理。
J Anaesthesiol Clin Pharmacol. 2014 Jan;30(1):117-8. doi: 10.4103/0970-9185.125732.