Mulchandani-Bhoj-Conlin综合征1例并文献复习  

A Case Report and Literature Review of Mulchandani-Bhoj-Conlin Syndrome

作　　者：李园[1] 陈琼[1] 曹冰燕[2] 陈永兴 卫海燕[1] LI Yuan;CHEN Qiong;CAO Bing-yan;CHEN Yong-xing;WEI Hai-yan(Department of Endocrinology,Genetics and Metabolism,Children's Hospital Affiliated to Zhengzhou University,Beijing Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou 450053,Henan Province,China;Department of Endocrinology,Genetics and Metabolism,National Children's Medical Center,Beijing Children's Hospital,Capital Medical University,Beijing 100045,China)

机构地区：[1]河南省儿童医院郑州大学附属儿童医院北京儿童医院郑州医院郑州儿童医院内分泌遗传代谢科,河南郑州450053 [2]首都医科大学附属北京儿童医院国家儿童医学中心内分泌遗传代谢科,北京100045

出　　处：《罕少疾病杂志》2023年第9期9-10,共2页Journal of Rare and Uncommon Diseases

摘　　要：本文报道了在我院确诊的1例M ulchandani-Bhoj-Conlin综合征患儿,结合特殊面容及基因检测,诊断为Mulchandani-Bhoj-Conlin综合征,目前国内尚无相关病例报道。本文根据患儿的临床特点,并结合文献进行分析,旨在提高对Mulchandani-Bhoj-Conlin综合征的认识,减少误诊和漏诊。This paper reported a case of Mulchandani-Bhoj-Conlin syndrome diagnosed in our hospital.Combined with her special facial features and genetic testing,it was diagnosed as Mulchandani-Bhoj-Conlin syndrome.Based on the clinical characteristics of the child and literature analysis,we aim to improve the understanding of Mulchandani-Bhoj-Conlin syndrome and reduce misdiagnosis and missed diagnosis.

关 键 词：宫内发育迟缓 喂养困难 生长发育迟缓 Mulchandani-Bhoj-Conlin综合征 

分 类 号：R725.8[医药卫生—儿科]