Costello综合征二例并文献复习(1)
【摘要】 目的 探討Costello综合征的临床特征。方法 分析2例Costello综合征患儿的临床特征、基因突变类型和随访情况，并以“Costello综合征”“科斯特洛综合征” “Costello syndrome”或“HRAS gene”为关键词，在中国知网、万方数据库及PubMed检索相关文献，总结国内外报道的该综合征的临床特征及基因类型。结果 2例患儿均表现为特殊面容(卷发、厚唇)，且生长发育迟缓，均存在HRAS基因第2外显子杂合点突变。确诊后均予2例患儿神经营养药物治疗，并让其定期运动和接受语言康复训练及个性化教育等，其运动和智力均有改善，但身高仍明显落后。经检索文献发现，国内外报道的Costello综合征患者的临床特征与上述2例患儿相似，以特殊面容、喂养困难、身材矮小和智力低下为主要临床表现，部分患儿尚有心血管、骨骼肌或中枢神经系统异常等表现，且伴发肿瘤易感性。结论 Costello综合征发病率极低，累及多系统病变。特殊体征及HRAS基因测序有助于疾病的诊断。
【关键词】 Costello综合征;HRAS基因;身材矮小;喂养困难
, 百拇医药
Costello syndrome： a report of two cases and literature review Jiang Zhuannan， Liu Zulin， Ou Hui， Hou Lele， Meng Zhe， Zhang Lina， Liang Liyang. Department of Pediatrics， Sun Yat-sen Memorial Hospital of Sun Yat-sen University， Guangzhou 510120， China
Corresponding author， Liang Liyang， E-mail： liangliy@ outlook. com
【Abstract】 Objective To investigate the clinical characteristics of Costello syndrome. Methods Clinical characteristics， type of gene mutation and follow-up of two cases of Costello syndrome were retrospectively analyzed. Literature review was performed in CNKI， Wanfang data and PubMed using the keywords of“Costello syndrome”or“HRAS gene” in both Chinese and English. The clinical characteristics and gene type of Costello syndrome in previous reports were summarized. Results The two children diagnosed with Costello syndrome presented with special signs (curly hair and thick lip)， growth retardation and heterozygous point mutation in exon 2 of HRAS gene. After the diagnosis， two children were treated with neurotrophic drug therapy， regular exercises， language rehabilitation training and individualized education， etc. The physical and intellectual abilities were improved， whereas the body height was significantly less than that of normal counterparts. The clinical characteristics of the Costello syndrome patients reported in literatures were similar to those of the two children in this paper. Special signs， feeding difficulty， short stature and mental retardation were the main clinical manifestations. Some patients presented with cardiovascular， skeletal or nervous system abnormalities，or complicated with tumor susceptibility. Conclusions The incidence of Costello syndrome is extremely low， which is involved with multiple systemic lesions. Special signs and HRAS gene sequencing contribute to the diagnosis of Costello syndrome.
【Key words】 Costello syndrome;HRAS gene;Short stature;Feeding difficulty, 百拇医药(江转南 刘祖霖 欧辉 侯乐乐 孟哲 张丽娜 梁立阳)
【关键词】 Costello综合征;HRAS基因;身材矮小;喂养困难
, 百拇医药
Costello syndrome： a report of two cases and literature review Jiang Zhuannan， Liu Zulin， Ou Hui， Hou Lele， Meng Zhe， Zhang Lina， Liang Liyang. Department of Pediatrics， Sun Yat-sen Memorial Hospital of Sun Yat-sen University， Guangzhou 510120， China
Corresponding author， Liang Liyang， E-mail： liangliy@ outlook. com
【Abstract】 Objective To investigate the clinical characteristics of Costello syndrome. Methods Clinical characteristics， type of gene mutation and follow-up of two cases of Costello syndrome were retrospectively analyzed. Literature review was performed in CNKI， Wanfang data and PubMed using the keywords of“Costello syndrome”or“HRAS gene” in both Chinese and English. The clinical characteristics and gene type of Costello syndrome in previous reports were summarized. Results The two children diagnosed with Costello syndrome presented with special signs (curly hair and thick lip)， growth retardation and heterozygous point mutation in exon 2 of HRAS gene. After the diagnosis， two children were treated with neurotrophic drug therapy， regular exercises， language rehabilitation training and individualized education， etc. The physical and intellectual abilities were improved， whereas the body height was significantly less than that of normal counterparts. The clinical characteristics of the Costello syndrome patients reported in literatures were similar to those of the two children in this paper. Special signs， feeding difficulty， short stature and mental retardation were the main clinical manifestations. Some patients presented with cardiovascular， skeletal or nervous system abnormalities，or complicated with tumor susceptibility. Conclusions The incidence of Costello syndrome is extremely low， which is involved with multiple systemic lesions. Special signs and HRAS gene sequencing contribute to the diagnosis of Costello syndrome.
【Key words】 Costello syndrome;HRAS gene;Short stature;Feeding difficulty, 百拇医药(江转南 刘祖霖 欧辉 侯乐乐 孟哲 张丽娜 梁立阳)