Mitchell Ryan M, Saltzman Babette S, Norton Susan J, Harrison Robert G, Heike Carrie L, Luquetti Daniela V, Sie Kathleen C Y
Cleft Palate Craniofac J. 2017 Nov;54(6):656-663. doi: 10.1597/15-348. Epub 2016 Jul 26.
To evaluate the association between craniofacial phenotype and hearing loss in children with craniofacial microsomia.
Retrospective cohort study.
Tertiary care children's hospital.
Individuals with craniofacial microsomia.
Ear-specific audiograms and standardized phenotypic classification of facial characteristics.
A total of 79 participants were included in the study. The mean age was 9 years (range, 1 to 23 years) and approximately 60% were boys. Facial anomalies were bilateral in 39 participants and unilateral in 40 participants (24 right, 16 left). Microtia (hypoplasia of the ear) was the most common feature (94%), followed by mandibular hypoplasia (76%), soft tissue deficiency (60%), orbital hypoplasia or displacement (53%), and facial nerve palsy (32%). Sixty-five individuals had hearing loss (12 bilateral and 53 unilateral). Hearing loss was conductive in 73% of affected ears, mixed in 10%, sensorineural in 1%, and indeterminate in 16%. Hypoplasia of the ear or mandible was frequently associated with ipsilateral hearing loss, although contralateral hearing loss occurred in 8% of hemifaces.
Hearing loss is strongly associated with malformations of the ipsilateral ear in craniofacial microsomia and is most commonly conductive. Hearing loss can occur contralaterally to the side with malformations in children with apparent hemifacial involvement. Children with craniofacial microsomia should receive early diagnostic hearing assessments.
评估颅面短小畸形患儿的颅面表型与听力损失之间的关联。
回顾性队列研究。
三级医疗儿童医院。
颅面短小畸形个体。
耳部特异性听力图和面部特征的标准化表型分类。
本研究共纳入79名参与者。平均年龄为9岁（范围1至23岁），约60%为男性。39名参与者面部异常为双侧，40名参与者为单侧（右侧24例，左侧16例）。小耳畸形（耳部发育不全）是最常见的特征（94%），其次是下颌骨发育不全（76%）、软组织缺损（60%）、眼眶发育不全或移位（53%）以及面神经麻痹（32%）。65人有听力损失（12例双侧，53例单侧）。73%的患耳听力损失为传导性，10%为混合性，1%为感音神经性，16%为不确定型。耳部或下颌骨发育不全常与同侧听力损失相关，尽管8%的半侧面部出现对侧听力损失。
在颅面短小畸形中，听力损失与同侧耳部畸形密切相关，且最常见的是传导性听力损失。在明显半侧面部受累的患儿中，畸形侧的对侧也可能出现听力损失。颅面短小畸形患儿应接受早期诊断性听力评估。
