PDF(Pubmed)
Abstract：
UNASSIGNED: To describe a novel case of Norrie disease and X-linked Kabuki syndrome caused by a microdeletion encompassing multiple genes on the X chromosome.
UNASSIGNED: A 3-day-old boy born at full term had bilateral retrolental fibrovascular plaques. Surgery with lensectomy and vitrectomy revealed bilateral, closed funnel retinal detachments consistent with a clinical diagnosis of Norrie disease. In addition, the baby had congenital heart defects, hearing loss, and dysmorphic facies. His mother carried a clinical diagnosis of Kabuki syndrome. Genetic testing of the baby revealed an Xp11.3 microdeletion that included the NDP and KDM6A genes, confirming the baby had both Norrie disease and X-linked Kabuki syndrome. The mother was found via ultrawide-field fluorescein angiography to have asymptomatic peripheral retinal vascular anomalies, consistent with NDP-associated familial exudative vitreoretinopathy (FEVR).
UNASSIGNED: This is the first reported case of Norrie disease together with X-linked Kabuki syndrome. Contiguous gene deletions may explain some of the variable systemic involvement in Norrie disease.
UNASSIGNED: A 3-day-old boy born at full term had bilateral retrolental fibrovascular plaques. Surgery with lensectomy and vitrectomy revealed bilateral, closed funnel retinal detachments consistent with a clinical diagnosis of Norrie disease. In addition, the baby had congenital heart defects, hearing loss, and dysmorphic facies. His mother carried a clinical diagnosis of Kabuki syndrome. Genetic testing of the baby revealed an Xp11.3 microdeletion that included the NDP and KDM6A genes, confirming the baby had both Norrie disease and X-linked Kabuki syndrome. The mother was found via ultrawide-field fluorescein angiography to have asymptomatic peripheral retinal vascular anomalies, consistent with NDP-associated familial exudative vitreoretinopathy (FEVR).
UNASSIGNED: This is the first reported case of Norrie disease together with X-linked Kabuki syndrome. Contiguous gene deletions may explain some of the variable systemic involvement in Norrie disease.
摘要：
未经授权：描述一个由X染色体上包含多个基因的微缺失引起的Norrie病和X连锁歌舞uki综合征的新病例。
未经证实：一个足月出生的3天大的男孩有双侧视网膜后纤维血管斑块。晶状体切除术和玻璃体切除术的手术显示双侧，闭合性漏斗视网膜脱离与Norrie病的临床诊断一致。此外,婴儿有先天性心脏缺陷,听力损失,和变形相。他的母亲进行了歌舞uki综合征的临床诊断。婴儿的基因检测显示Xp11.3微缺失，其中包括NDP和KDM6A基因，确认婴儿患有Norrie病和X连锁歌舞uki综合征。通过超宽视野荧光素血管造影发现母亲有无症状的周边视网膜血管异常，与NDP相关家族性渗出性玻璃体视网膜病变（FEVR）一致。
未经证实：这是首例诺里病合并X连锁歌舞uki综合征的病例。连续基因缺失可能解释了Norrie疾病中某些可变的系统性参与。
未经证实：一个足月出生的3天大的男孩有双侧视网膜后纤维血管斑块。晶状体切除术和玻璃体切除术的手术显示双侧，闭合性漏斗视网膜脱离与Norrie病的临床诊断一致。此外,婴儿有先天性心脏缺陷,听力损失,和变形相。他的母亲进行了歌舞uki综合征的临床诊断。婴儿的基因检测显示Xp11.3微缺失，其中包括NDP和KDM6A基因，确认婴儿患有Norrie病和X连锁歌舞uki综合征。通过超宽视野荧光素血管造影发现母亲有无症状的周边视网膜血管异常，与NDP相关家族性渗出性玻璃体视网膜病变（FEVR）一致。
未经证实：这是首例诺里病合并X连锁歌舞uki综合征的病例。连续基因缺失可能解释了Norrie疾病中某些可变的系统性参与。
