PDF(Pubmed)
Abstract：
BACKGROUND: Congenital glaucoma associated with Roberts syndrome (RS) is an unusual and unique condition. No previous report describes this association. A multidisciplinary approach including molecular studies were conducted to reach the final diagnosis.
METHODS: We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma, left ectopic kidney, and left-hand rudimentary digits. A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo. Cytogenetic and molecular testing were conducted and revealed normal measurements.
CONCLUSIONS: This report described a case of a male baby with clinical features of RS but with a negative molecular analysis, presenting with left-hand rudimentary digits, bilateral congenital glaucoma, and left ectopic kidney. To the best of our knowledge, this is the first case reported with phocomelia, bilateral congenital glaucoma, and unilateral ectopic kidney.
METHODS: We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma, left ectopic kidney, and left-hand rudimentary digits. A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo. Cytogenetic and molecular testing were conducted and revealed normal measurements.
CONCLUSIONS: This report described a case of a male baby with clinical features of RS but with a negative molecular analysis, presenting with left-hand rudimentary digits, bilateral congenital glaucoma, and left ectopic kidney. To the best of our knowledge, this is the first case reported with phocomelia, bilateral congenital glaucoma, and unilateral ectopic kidney.
摘要：
背景：与Roberts综合征（RS）相关的先天性青光眼是一种不寻常且独特的疾病。以前没有报告描述这种关联。进行了包括分子研究在内的多学科方法以达到最终诊断。
方法：我们介绍了一例罕见的1周龄男性与双侧先天性青光眼相关的RS，左异位肾,和左手的基本数字。采用综合方法，进行双侧非穿透性青光眼手术，并良好控制眼压超过6个月。进行细胞遗传学和分子检测，并显示正常测量。
结论：本报告描述了一例具有RS临床特征但分子分析阴性的男性婴儿，用左手的基本数字呈现，双侧先天性青光眼，离开了异位肾脏.据我们所知,这是报告的首例phocomelia病例，双侧先天性青光眼，和单侧异位肾.
方法：我们介绍了一例罕见的1周龄男性与双侧先天性青光眼相关的RS，左异位肾,和左手的基本数字。采用综合方法，进行双侧非穿透性青光眼手术，并良好控制眼压超过6个月。进行细胞遗传学和分子检测，并显示正常测量。
结论：本报告描述了一例具有RS临床特征但分子分析阴性的男性婴儿，用左手的基本数字呈现，双侧先天性青光眼，离开了异位肾脏.据我们所知,这是报告的首例phocomelia病例，双侧先天性青光眼，和单侧异位肾.
