新生儿歪嘴哭综合征一例报告及文献复习

Neonatal asymmetric crying facies syndrome：a case report and literature review

目的：分析我国歪嘴哭综合征新生儿的临床特征及研究进展。方法报告2013年3月北京协和医院收治的1例新生儿歪嘴哭综合征病例，结合在中国期刊全文数据库及万方数据库检索到的17篇相关文献中的47例患儿资料，分析我国有关新生儿歪嘴哭面容的临床特征、染色体异常、治疗及预后。结果患儿哭闹时口角向右侧歪斜，左耳耳廓发育不良、左耳前瘘管，软腭裂开，心前区可闻及Ⅱ/6级收缩期杂音。心脏彩超提示室间隔缺损（肌部）、房间隔缺损、动脉导管未闭。头颅B超未见异常。微阵列比较基因组杂交技术对该患儿进行染色体检测，未发现微缺失或重复。生后第4天患儿出院。随访至生后3个月，患儿歪嘴哭面容无改善，体重、身长、头围均在正常范围。通过文献检索，共获得中文文献18篇。包括本例患儿在内，国内共报告患儿48例，其中男31例，女17例。48例患儿中，歪嘴哭面容12例，歪嘴哭综合征36例。歪嘴哭综合征合并先天性畸形以心脏畸形最为常见（26例，72.2%），其次为合并耳部畸形（11例，30.6%），其他依次为消化道畸形（4例，11.1%）、腭裂（2例，5.6%）以及多指或并指（2例，5.6%）。仅3例行标准染色体核型分析检查，未发现异常；1例行荧光原位杂交，但未发现22q11.2染色体微缺失。国内缺少对该病长期随访研究的文献报道。结论新生儿歪嘴哭面容常合并其他系统畸形。一旦发现歪嘴哭面容的患儿，需深入检查及长期随访，以早期发现其他系统畸形，及早干预治疗，改善患儿预后。

Objective To determine the clinical characteristics of neonatal asymmetric crying facies and to review the latest progress in clinical research of this condition. Methods Clinical and laboratory data of a case of neonatal asymmetric crying facies syndrome admitted to Peking Union Medical College Hospital in March, 2013 was reported. Clinical charateristics, chromosome abnormalities, treatment and prognosis of neonatal asymmetric crying facies reported in China were analyzed, and pertinent literatures in China Knowledge Resource Integrated Database and CQVIP Database were reviewed. Results Eighteen Chinese reports on this syndrome were retrieved and 48 patients, 31 males and 17 females including our patient, were analyzed. Twelve patients had neonatal asymmetric crying facies and 36 patients had neonatal asymmetric crying facies syndrome. Anomalies in these children included malformations of the heart （26 cases, 72.2%）, ear （11 cases, 30.6%）, gastrointestinal tract （4 cases, 11.1%）, cleft palate （2 cases, 5.6%） and fingers （2 cases, 5.6%）. Standard chromosome analysis in three studies was normal. In one case, chromosome 22q11.2 microdeletion was not found using flucrescence in situ hyloridization analysis. There were few studies with long-term follow-up in China. Conclusions Neonatal asymmetric crying facies are complicated with a high rate of other malformations. Identification of associated malformations and close follow-up are required, and intervention should be carried out earlier so as to ensure a good outcome.