Treacher Collins综合征的神经根囊肿和缘皮样

Aparna Dave, R. Tanwar, Manpreet Kalra, P. Saluja
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引用次数: 0

摘要

Treacher Collins综合征(TCS, OMIM 154500)[1]是一种罕见的颅面区常染色体显性遗传病,起源于第一和第二鳃弓的结构,如耳朵、眼睑、上颌骨和下颌骨受到影响。女性,18岁,主要表现为面部畸形,部分畸形,巨舌,错颌,腭裂,结肠,缘皮样畸形,耳廓畸形,部分听力丧失(右耳道缺失),颧发育不全,下颌骨左体及上颌后区根状囊肿。本例中,虽然根状囊肿是偶然发现的,但在TCS中报告的缘皮样囊肿是一种罕见的表现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Radicular Cysts and limbal dermoid in Treacher Collins syndrome
Treacher Collins syndrome (TCS, OMIM 154500) [1] is a rare autosomal dominant disorder of the craniofacial region and structures derived from first and second branchial arches such as the ears, eyelids, maxilla and mandible are affected in this syndrome. An 18 year old female presented with the dysmorphic features of the face, partial anodontia, macroglossia, malocclusion, cleft palate, coloboma, limbal dermoid, deformity of the pinna, partial hearing loss (absence of right ear canal), malar hypoplasia and radicular cyst in the left body of mandible as well as in the maxillary posterior region. In this case, though radicular cysts are incidental findings, the limbal dermoid reported here is a rare manifestation in TCS.
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