19q13微缺失综合征是一种非常罕见的遗传性疾病,其特征是出生前和出生后的生长迟缓,智力残疾,表达性语言障碍,外胚层发育不良,和纤细的习惯。自1998年第一例病例描述以来,全世界报告的病例不到30例。本文旨在回顾迄今为止在这一主题上收集的知识,并介绍一名10岁女孩于2018年11月被国立大学儿童神经康复中心“NicolaeRobanescu博士”录取的案例,生长迟缓,面部畸形,骨骼异常,外胚层发育不良.阵列-CGH分析显示在19q13.32-q13.33区域有1.53Mb缺失。FKRP基因的MLPA显示微缺失是从头的。患者的表型与19q13微缺失综合征的临床特征重叠。据我们所知,这是罗马尼亚首次报道的19q13微缺失综合征病例.我们相信我们的病例呈现了以前从未报道过的这种综合征的额外特征,即,第三脑室扩张和室管膜下囊肿,左虹膜缺损,和气管软化症.此外,与其他19q13微缺失病例不同,表现为肌张力障碍,我们的病人也出现了肌张力障碍,但是,有趣的是,没有KMT2B基因的单倍体不足。
19q13 microdeletion syndrome is a very rare genetic disease characterized by pre- and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. Since the description of the first
case in 1998, less than 30 cases have been reported worldwide. This article aims to review the knowledge gathered so far on this subject and to present the
case of a 10-year-old girl admitted to the National University Center for Children Neurorehabilitation \"Dr. Nicolae Robanescu\" in November of 2018 who presented a slender habitus, growth retardation, facial dysmorphism, skeletal abnormalities, and ectodermal dysplasia. Array-CGH analysis revealed a 1.53 Mb deletion in the 19q13.32-q13.33 region. MLPA for the FKRP gene revealed that the microdeletion was de novo. The patient\'s phenotype overlapped with the clinical features of 19q13 microdeletion syndrome. To our knowledge, this is the first
case of 19q13 microdeletion syndrome to ever be reported in Romania. We believe our
case presents additional features that have never been previously reported in this syndrome, namely, dilatation of the third ventricle and subependymal cyst, left iris coloboma, and tracheomalacia. Moreover, unlike the other 19q13 microdeletion cases that presented with dystonia, our patient also presented dystonia but, interestingly, without having haploinsufficiency of the KMT2B gene.