Department of Medicine, University of Alberta, Edmonton, Alberta, Canada2Department of Dentistry, University of Alberta, Edmonton, Alberta, Canada.
Department of Pediatric Otolaryngology, University of Alberta Hospital, Edmonton, Alberta, Canada4Division of Otolaryngology-Head and Neck Surgery, University of Alberta Hospital, Edmonton, Alberta, Canada5Division of Pediatric Surgery, Department of Surg.
JAMA Otolaryngol Head Neck Surg. 2014 May;140(5):464-8. doi: 10.1001/jamaoto.2014.236.
IMPORTANCE Diprosopus is a medical condition that refers to full or partial craniofacial duplication. A particular subset of this condition, duplication of the mouth, is an exceedingly rare condition, with 7 reported cases in the medical literature. The embryogenesis and mechanism of disease are not well understood. The objective of this report was to describe a case of partial facial duplication with a discussion of the previous literature, leading to a proposed theory of embryogenesis for this rare anomaly. OBSERVATIONS We present a rare case of duplication of the mouth associated with an intraoral dysontogenic cyst, which presented with upper airway obstruction. The diagnostic and management strategies are discussed, as well as the histopathological features and theories of embryogenesis. CONCLUSIONS AND RELEVANCE On the basis of our findings, we propose the mechanism of origin for duplication of the mouth to be duplication of the first branchial arch. This case offers a deeper understanding of the mechanism of this disease than previously reported. Additional basic science and clinical research is needed to corroborate this theory.
重要性 双面畸形是一种全颅或部分颅面重复的医学病症。这种病症的一个特殊子集是口腔重复，这是一种极其罕见的病症，在医学文献中有 7 例报道。胚胎发生和疾病机制尚不清楚。本报告的目的是描述一例部分面部重复的病例，并讨论以往的文献，提出对这种罕见异常的胚胎发生理论。
观察结果 我们介绍了一例罕见的口腔重复合并口腔内发育性囊肿的病例，该病例表现为上呼吸道梗阻。讨论了诊断和治疗策略，以及组织病理学特征和胚胎发生理论。
结论和相关性 根据我们的发现，我们提出口腔重复的起源机制是第一鳃弓的重复。该病例比以往报道的病例更深入地了解了该疾病的发病机制。需要更多的基础科学和临床研究来证实这一理论。
