Department of Otorhinolaryngology/Head and Neck Surgery, Haydarpaşa Numune Educational and Research Hospital, İstanbul, Turkey.
J Craniomaxillofac Surg. 2012 Dec;40(8):e392-6. doi: 10.1016/j.jcms.2012.02.009. Epub 2012 Apr 5.
Malformation of the inner nose is often found in conjunction with different types of cleft palate or may be seen with severe and complex craniofacial anomalies. Among such malformations, however, isolated vomer aplasia is rarely reported in the literature. This study sets forth our findings that congenital vomeral defect of the nasal septum is an isolated disorder with hereditary characteristics. Between 2001 and 2009, nine cases of isolated congenital vomeral bone defect were detected on endoscopic examination of patients referred to our clinic with nasal and otologic complaints. The files of these patients were reviewed and vomer aplasia was identified as an isolated hereditary condition with concomitant sinonasal symptoms. The defect of the posteroinferior part of the nasal septum was defined as a genetic disease presenting with no significant medical problems. Chromosomal analysis of these patients may help to reveal the relationship of this anomaly with different malformations of the maxillofacial complex.
鼻腔内畸形常与不同类型的腭裂同时存在，也可能与严重且复杂的颅面畸形同时存在。然而，在这些畸形中，孤立性犁骨缺失在文献中很少报道。本研究阐述了我们的发现，即先天性鼻中隔犁骨缺陷是一种具有遗传特征的孤立性疾病。2001 年至 2009 年，我们对因鼻部和耳部问题就诊的患者进行鼻内镜检查，共发现 9 例孤立性先天性犁骨骨缺损。我们对这些患者的病历进行了回顾，发现犁骨缺失是一种孤立的遗传性疾病，伴有鼻旁窦症状。鼻中隔后下部分的缺损被定义为一种以无明显医学问题为特征的遗传病。对这些患者进行染色体分析可能有助于揭示该异常与颌面复合畸形的关系。
