Bosma Arhinia Microphthalmia Syndrome: Clinical Report and Review of the Literature
Bosma Arhinia Microphthalmia Syndrome: Clinical Report and Review of the Literature
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DOI：
10.1002/ajmg.a.37572
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发表时间：
2016-05-01
影响因子：
2
通讯作者：
Schimmenti, Lisa A.
中科院分区：
文献类型：
--
作者：
Brasseur, Benjamin;Martin, Cindy M.;Schimmenti, Lisa A.
Bosma arhinia microphthalmia综合征（Bosma综合征）（OMIM 603457）是一种在智力和大脑结构正常的情况下，以小眼畸形、arhinia和内分泌发现为特征的先天性疾病。这种情况相当罕见，只有不到50例报告和系列。虽然发病机制被认为是遗传的，但病因尚不清楚。我们报告了一个患有Bosma综合征的个体，他患有双侧结肠性小眼、鼻炎、高弓腭、轻度耳畸形和促性腺功能低下，需要在儿童时期使用生长激素治疗，智力正常。临床评价是显著的几何形状异常的主动脉与窦管嵴的消失，发现以前没有报道过这种情况。核磁共振显示嗅球缺失。建议诊断Bosma的标准应包括肛交、上颌骨发育不良、认知正常和男性促性腺功能减退。(C) 2016 Wiley期刊公司
Bosma arhinia microphthalmia syndrome (Bosma syndrome) (OMIM 603457) is a congenital condition characterized by microphthalmia with coloboma, arhinia and endocrine findings in the setting of normal intelligence and brain structure. This condition is quite rare with fewer than 50 case reports and series. Although pathogenesis is presumed to be genetic, the cause remains unknown. We report an individual with Bosma syndrome who had bilateral colobomatous microphthalmia, arhinia, high arched palate, mild ear malformations, and hypogonadotropic hypogonadism requiring growth hormone treatment in childhood, and normal intelligence. Clinical evaluation was significant for a geometrically abnormal aorta with effacement of the sinotubular ridge, a finding not previously reported in this condition. An MRI revealed absent olfactory bulbs. Suggested criteria for diagnosis of Bosma should include arhinia, hypoplastic maxilla, normal cognition, and hypogonadotropic hypogonadism in males. (C) 2016 Wiley Periodicals, Inc.