Cohen D, Goitein K J
Dept. of Otolaryngology, Bikur Holim Hospital, Jerusalem, Israel.
Rhinology. 1987 Dec;25(4):237-44.
Arhinia is a rare anomaly in which a total absence of the nose and parts of the olfactory system occurs. It is frequently associated with various multiple central nervous system (CNS) and somatic anomalies of different degrees of severity, with high mortality rate. Twelve cases that have been reported in the literature are analyzed according to multiple criteria. The anomalies that have been found to be associated with arhinia are: lack of olfactory bulbs and nerves, missing paranasal sinuses, high arched or cleft palate, various eye anomalies, low set ears - all in a very high incidence. Various degrees of CNS malformations have been found in part of the cases. Somatic anomalies have been reported in 50% of the cases. In two cases chromosome 9 anomalies have been reported. A classification is suggested in which arhinia is classified into arhinia (total absence of the nose and rhinencephalon) and partial arhinia (partial absence of the nose), each may or may not be associated with other malformations (facial, CNS and somatic).
无鼻畸形是一种罕见的异常情况，表现为完全没有鼻子以及部分嗅觉系统。它常与各种不同严重程度的多发性中枢神经系统（CNS）和躯体异常相关，死亡率很高。根据多种标准对文献中报道的12例病例进行了分析。已发现与无鼻畸形相关的异常包括：嗅球和神经缺失、鼻窦缺如、高拱腭或腭裂、各种眼部异常、低位耳——所有这些异常的发生率都非常高。部分病例中发现了不同程度的CNS畸形。50%的病例报告了躯体异常。有两例报告了9号染色体异常。建议进行一种分类，将无鼻畸形分为无鼻（鼻子和嗅脑完全缺失）和部分无鼻（鼻子部分缺失），每种情况可能与也可能不与其他畸形（面部、CNS和躯体）相关。
