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.
作者
李园
陈琼
曹冰燕
陈永兴
卫海燕
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)
出处
《罕少疾病杂志》
2023年第9期9-10,共2页
Journal of Rare and Uncommon Diseases
