Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019
[Asymmetric crying facies and vocal cord paralysis accompanied by congenital heart disease in an infant].
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Wei Hong-Ling, Piao Mei-Hua, Zhang Juan, Liu Ling, Chang Yan-Mei
Аннотация
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.