论文部分内容阅读
目前,以先天性缺指(趾)、并指(趾)或手足裂和外胚叶发育不全伴或不伴腭裂的唇裂为主要临床表现的先天性缺指(趾)-外胚叶发育不全-唇/腭裂(EEC)综合征的病因仍然不明,给疾病的防治带来了较大的困难。迄今为止,分子遗传学研究已定位了EEC综合征的3个基因座,克隆到1个致病基因。EEC综合征临床表现复杂,外显率和表现度在人群中差异较大,临床上还存在一系列症状相似的EEC类似综合征,不易鉴别。本文剖析EEC综合征的临床和遗传学特点,将有利于临床医师进行诊断和鉴别诊断,并为下一步病因学研究提供帮助。
At present, congenital absence of the digit (toe), and the fingers (toes) or hand-foot-split and ectodermal hypoplasia with or without cleft lip cleft as the main clinical manifestations of congenital absence of finger (toe) - ectodermal hypoplasia - The cause of lip / cleft palate (EEC) syndrome is still unknown, bringing great difficulties to the prevention and treatment of the disease. To date, molecular genetics studies have mapped 3 loci of EEC syndrome and cloned 1 virulence gene. EEC syndrome clinical manifestations of complex, significant differences in penetrance and performance in the population, there are also clinically similar symptoms of similar EEC syndrome, not easy to identify. This article analyzes the clinical and genetic features of EEC syndrome, which will be of benefit to clinicians in the diagnosis and differential diagnosis, and will help the next etiology study.