Bosmaarhinia小眼症综合征(BAMS)是一种罕见的疾病,全球约有100例。它的特点是鼻腔和眼科异常,以及青春期和性发育的障碍。红衣主教的标志是艾希尼亚,尽管有些病例外鼻部分发育不全。此外,几份报告显示大脑结构异常,包括嗅觉灯泡的改变。该病例描述了一名29岁的女性,自出生以来一直患有BAMS。在介绍时,她被发现患有先天性紫荆,双侧小眼症,视力丧失,嘴巴呼吸,说话不清晰的声音,高拱形或腭裂,上颌骨发育不全.她的鼻旁窦骨化和不发达。这种综合征很少发生,在越南和世界各地。它的特点有四个主要特征:阿列尼亚,完全没有鼻旁窦,眼睛缺陷,缺乏性成熟。该病例报告描述了该疾病的表现,以提高耳鼻喉科医师对BAMS的理解。诊断标准包括紫荆,中面发育不全(上颌骨发育不全),低促性腺激素性性腺功能减退,和正常的智力。其他重要发现是小眼症伴或不伴结肠瘤,嗅觉缺失,上颌发育不全,高拱形腭,没有鼻旁窦和嗅球。
Bosma
arhinia microphthalmia syndrome (BAMS) is a rare condition, with about 100 cases identified worldwide. It is characterized by nasal and ophthalmic abnormalities, as well as disturbances in puberty and sexual development. The cardinal sign is
arhinia, though some cases have partial aplasia of the external nose. In addition, several reports have revealed abnormal brain structure, including changes to the olfactory bulbs. This case describes a 29-year-old female who has suffered from BAMS since birth. On presentation, she was noted to have congenital
arhinia, bilateral microphthalmia, vision loss, mouth-breathing, an unclear speaking voice, a high arched or cleft palate, and a hypoplastic maxilla. Her paranasal sinuses were ossified and underdeveloped. This syndrome occurs rarely, both within Vietnam and worldwide. It is characterized by four major features: arrhinia, complete absence of the paranasal sinuses, eye defects, and absent sexual maturation. This case report describes the presentation of the disorder to improve otolaryngologists\' understanding of BAMS. Criteria for diagnosis consist of
arhinia, midface hypoplasia (with a hypoplastic maxilla), hypogonadotropic hypogonadism, and normal intellectual abilities. Additional important findings are microphthalmia with or without coloboma, anosmia, maxillary hypoplasia, a high-arched palate, and absence of paranasal sinuses and olfactory bulbs.