歪嘴哭面容、声带麻痹合并先天性心脏病

Asymmetric crying facies and vocal cord paralysis accompanied by congenital heart disease in an infant

摘要:

患儿，女，生后2 h，因口周青紫入院。出生胎龄35周，剖宫产娩出，出生体重2 400 g。查体发现哭时口角向左侧歪斜、小耳廓、高腭弓，纤维喉镜示双侧声带麻痹，超声心动图示室间隔缺损，单核苷酸多态性检查示22q11.21微缺失，该患儿确诊为歪嘴哭综合征伴22q11.21微缺失。随访至8个月，患儿仍存在歪嘴哭面容，并且存在生长发育迟缓。

Abstract:

A female infant was admitted to the hospital due to perioral cyanosis two hours after birth. The infant was born at the gestational age of 35 weeks by cesarean section with a birth weight of 2 400 g. Physical examination revealed wry mouth to the left side while crying, small auricles, and high palatal arch; fibrolaryngoscopy suggested bilateral vocal cord paralysis; echocardiography suggested ventricular septal defect; single nucleotide polymorphism testing showed 22q11.21 microdeletion. Therefore, the infant was given a definite diagnosis of asymmetric crying facies syndrome accompanied by 22q11.21 microdeletion. After 8-month follow-up, the infant still had asymmetric crying facies with presence of growth retardation.