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目的提高对Edwards-Klinefelter综合征的认识。方法报告我院1例和分析迄今文献报道的13例活产Edwards-Klinefelter综合征患儿的临床资料。结果 14例Edwards-Klinefelter综合征患儿中,本例及12例文献报告孕母年龄为21~45岁,中位年龄为23岁。除1例临床资料不详,本例及文献报道12例为小于胎龄儿,并具有18-三体综合征的临床表现,如头面部异常、双手紧握、先天性心脏病等。14例Edwards-Klinefelter综合征患儿,1例死亡时间不详,生后1w内死亡4例,3例生后10~18天死亡,4例生后1月~4月龄死亡,本例存活超过1月失访,1例存活超过21个月。结论Edwards-Klinefelter综合征的发生可能与孕母年龄关系不大,孕期可有宫内发育迟缓且具有18-三体综合征的临床表现。
Objective To improve the understanding of Edwards-Klinefelter syndrome. Methods Reported 1 case in our hospital and analyzed the clinical data of 13 live-born Edwards-Klinefelter syndromes reported to date. Results Of 14 children with Edwards-Klinefelter syndrome, 12 cases reported in this case and pregnant women were 21 to 45 years old, with a median age of 23 years. In addition to 1 case of clinical data is unknown, in this case and reported in the literature 12 cases of children less than gestational age, and has the clinical manifestations of 18-trisomy syndrome, such as head and face abnormalities, hands clenched, congenital heart disease. In 14 children with Edwards-Klinefelter syndrome, the death time was unknown in 1 case, 4 cases died within 1w after birth, 3 died from 10 to 18 days after birth and 4 died from 1 month to 4 months after birth. In this case, the survival exceeded One lost in January and one survived for more than 21 months. Conclusion The occurrence of Edwards-Klinefelter syndrome may not be related to the age of the pregnant mother. Pregnancy may have intrauterine growth retardation and clinical manifestations of 18-trisomy syndrome.