CAJ | 학술논문

报告1例新生儿期伴双膝关节过伸的猫叫综合征,同时回顾总结2000年至今国内核心期刊文献报道的34例,共同分析该症的临床特点.结果显示,35例中男12例,女23例,主要临床表现为面容特殊35例(100％)、喂养困难35例(100％)、哭声异常33例(94％).在新生儿期就诊原因主要为哭声低弱、喂养困难、青紫,婴幼儿期就诊原因多为反复呼吸道感染、发育落后以及合并其他异常.新生儿期确诊比例高,1岁以内的为85％.染色体检查为猫叫综合征的确诊手段,染色体核型主要以5号染色体短臂缺失5P-为最常见,临床表现与5号染色体短臂缺失部位相关.提示,增强对猫叫综合征的认识,能够早期发现并进行染色体检测,提高新生儿时期的诊断率,对患儿及家长都具有重要意义.
보고1례신생인기반쌍슬관절과신적묘규종합정,동시회고총결2000년지금국내핵심기간문헌보도적34례,공동분석해증적림상특점.결과현시,35례중남12례,녀23례,주요림상표현위면용특수35례(100％)、위양곤난35례(100％)、곡성이상33례(94％).재신생인기취진원인주요위곡성저약、위양곤난、청자,영유인기취진원인다위반복호흡도감염、발육락후이급합병기타이상.신생인기학진비례고,1세이내적위85％.염색체검사위묘규종합정적학진수단,염색체핵형주요이5호염색체단비결실5P-위최상견,림상표현여5호염색체단비결실부위상관.제시,증강대묘규종합정적인식,능구조기발현병진행염색체검측,제고신생인시기적진단솔,대환인급가장도구유중요의의.
A neonatal girl with overextended knees admitted to NICU of our hospital was diagnosed as cri du chat (cat cry) syndrome.We collected 34 cases of cri du chat reported in journals since 2000,the clinical features of total 35 cases were retrospectively analyzed.Among 35 cases 12 were boys and 23 girls.The most common clinical manifestations were characteristic face features(100％),difficult feeding(100％) and typical sound of cry(94％).The main complains at hospital visit were typical cry,difficult feeding and cyanosis in the neonatal period,while in childhood period were recurrent respiratory infection,developmental retardation and other abnormalities.Most cases were diagnosed in the neonatal phase,while 85.3％ were in the first year.The diagnosis was based on karyotype analysis; chromosome 5 short arm deletion (5P-) was the most significant genetic variation and clinical features were associated with the position of deletion.