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垂体和基底动脉重复,伴有多处中线融合缺陷和颅面异常。

Duplication of the pituitary gland and basilar artery, with multiple midline fusion defects and craniofacial anomalies.

作者信息

Spiller P, Manzi B, Gungor N, Gungor A

机构信息

Department of Otolaryngology - Head and Neck Surgery, LSU Health Shreveport, Shreveport, LA, USA.

Department of Otolaryngology - Head and Neck Surgery, LSU Health Shreveport, Shreveport, LA, USA.

出版信息

Int J Pediatr Otorhinolaryngol. 2020 Apr;131:109897. doi: 10.1016/j.ijporl.2020.109897. Epub 2020 Jan 21.

Abstract

Duplication of the pituitary gland (DPG) is a phenomenon with no clear syndromic association. This case adds to the literature as a DPG-plus syndrome patient with multiple fusion defects of unknown etiology, fetal risk factors of first trimester tobacco usage and intrauterine drug exposure. An 8-month old female presented with noisy breathing, poor feeding, cleft palate, seizures and failure to thrive. MRI scan revealed duplicate pituitary gland, tubomammillary fusion, absent cleavage of brainstem and superior cerebellar peduncles, and cervical spinal malformations. We performed an airway evaluation, with a glossomandibulopexy for glossoptosis, and a primary palate repair.

摘要

垂体重复(DPG)是一种无明确综合征关联的现象。该病例作为一名患有多种病因不明的融合缺陷、孕早期吸烟和宫内药物暴露等胎儿危险因素的DPG加综合征患者,补充了文献资料。一名8个月大的女性出现呼吸嘈杂、喂养困难、腭裂、癫痫发作和发育不良。MRI扫描显示垂体重复、乳头体融合、脑干和上小脑脚无分离以及颈椎畸形。我们进行了气道评估,针对舌后坠进行了舌下颌固定术,并进行了原发性腭裂修复。

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