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主要唾液腺完全缺如。

Complete agenesis of major salivary glands.

作者信息

Berta E, Bettega G, Jouk P S, Billy G, Nugues F, Morand B

机构信息

Department of Maxillofacial Surgery, Grenoble Teaching Hospital Nord, Grenoble, France.

出版信息

Int J Pediatr Otorhinolaryngol. 2013 Oct;77(10):1782-5. doi: 10.1016/j.ijporl.2013.07.025. Epub 2013 Aug 28.

Abstract

A 4 year-old female patient was treated for persistent right-sided dacryocystitis and xerostomia. MRI was performed to screen for a dry syndrome; which resulted in the diagnosis of agenesis of the parotid and submandibular glands as well as lacrimal duct malformation. An MRI of each parent was normal. The mother's history revealed 4 days of pyrexia during the 8th week of amenorrhea. This was an isolated case, with no family history, characterized by a febrile episode during pregnancy at the period of main salivary gland genesis. Epigenetic mechanisms could be implicated.

摘要

一名4岁女性患者因右侧持续性泪囊炎和口干接受治疗。进行了MRI检查以筛查干燥综合征;结果诊断为腮腺和颌下腺发育不全以及泪管畸形。每位家长的MRI检查结果均正常。母亲的病史显示,闭经第8周时有4天发热。这是一个孤立病例,无家族史,其特征是在主要唾液腺发育期间的孕期出现发热发作。可能涉及表观遗传机制。

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