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先天性无鼻伴重度听力损失和完全性腭裂:一种具有挑战性的三联征。

Congenital Arrhinia with Profound Hearing Loss and Complete Cleft Palate: A Challenging Triad.

作者信息

Chowdhary Stuti, Asif Syed Kamran

机构信息

Department of Otorhinolaryngology, Christian Medical College, Vellore, Tamil Nadu 632004 India.

出版信息

Indian J Otolaryngol Head Neck Surg. 2025 Mar;77(3):1630-1634. doi: 10.1007/s12070-025-05343-5. Epub 2025 Jan 18.

Abstract

Congenital arrhinia (CA) is an infrequent condition with hypoplasia of internal and external nasal passages. This, along with a complete cleft palate and profound hearing loss, constitutes a problematic challenge to rehabilitate the airway, speech and hearing. Aplasia of the nose is also associated with various other congenital anomalies, such as midline defects, olfactory agenesis and structural abnormalities in the brain. The patients are predisposed to respiratory and feeding problems at birth and need early intervention for the same. Bosma Arhinia Microphthalmia (BAM) syndrome is its most severe presentation. Rehabilitation is complicated and needs multidisciplinary cooperation. Due to its rare nature, management is decided on a case-by-case basis with no clearly defined guidelines. Sensory deprivation leads to delays in developmental milestones. To the authors' best knowledge, this is the first report of arrhinia with profound SNHL and cleft palate being reported in the literature.

摘要

先天性无鼻(CA)是一种罕见的病症,其特征为鼻腔内外发育不全。这一情况,再加上完全性腭裂和严重听力损失,给气道、言语和听力的康复带来了难题。鼻发育不全还与各种其他先天性异常有关,如中线缺陷、嗅觉缺失和脑部结构异常。患者在出生时易出现呼吸和喂养问题,因此需要尽早进行干预。博斯马无鼻小眼综合征(BAM)是其最严重的表现形式。康复过程复杂,需要多学科合作。由于其罕见性,治疗方案需根据具体病例确定,尚无明确的指导方针。感觉剥夺会导致发育里程碑延迟。据作者所知,这是文献中首次报道伴有严重重度感音神经性听力损失和腭裂的无鼻病例。

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本文引用的文献

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Cureus. 2023 Feb 20;15(2):e35222. doi: 10.7759/cureus.35222. eCollection 2023 Feb.
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A Clinical Report of the Complete Nasal Agenesis: Reconstruction of Congenital Arhinia and Review of the Literature.
Cleft Palate Craniofac J. 2023 Jun;60(6):752-757. doi: 10.1177/10556656221075939. Epub 2022 Jan 24.
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