Bosma arhinia microphthalmia syndrome
Bosma arhinia microphthalmia syndrome
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DOI：
10.1002/ajmg.a.31039
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发表时间：
2006-01-15
影响因子：
2
通讯作者：
Lee, J
中科院分区：
文献类型：
--
作者：
Graham, JM;Lee, J
Bosma等人[1981]描述了一种综合征，影响两名无亲缘关系的男性，伴有严重的鼻和眼发育不全、腭异常、味觉和嗅觉缺陷、腹股沟疝、促性腺功能减退伴隐睾和智力正常。其他患有这种综合征的患者也被报道为有相关缺陷的鸡臀草病例。在胚胎发育过程中，鼻基板在受孕后28天形成，第2627天，视神经囊泡与上覆表面外胚层接触后不久形成，两层内陷在34至44天之间形成眼睛。携带Pax6纯合突变的小鼠，眼部和鼻腔结构发育不足，Pax6下游的发育调节基因网络形成鼻腔、眼部和垂体结构。这些基因代表了这种疾病的候选基因，据报道，博斯玛综合征的家族性复发时有发生。本报告描述了这一罕见综合征的两例散发的不相关病例，并简要回顾了以前报告病例的发现。(c) 2005 Wiley-Liss, Inc。
Bosma et al. [1981] delineated a syndrome affecting two unrelated males with severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Other patients with this syndrome have been reported as cases of arhinia with associated defects. During embryonic development, the nasal placodes form 28 days after conception shortly after the optic vesicles makes contact with the overlying surface ectoderm at 2627 days, and both layers invaginate to form the eyes between 34 and 44 clays. Mice with homozygous mutations of Pax6, manifest underdevelopment of ocular and nasal structures, and a network of developmentally regulated genes function downstream of Pax6 to form nasal, ocular, and pituitary structures. These genes represent candidate genes for this disorder, and familial recurrence of Bosma syndrome has been reported to occur. This report describes two sporadic Unrelated cases of this rare syndrome and briefly reviews the findings in previously reported cases. (c) 2005 Wiley-Liss, Inc.