歪嘴哭面容、声带麻痹合并先天性心脏病

魏红玲; 朴梅花; 张娟; 刘玲; 常艳美

doi:10.7499/j.issn.1008-8830.2019.06.016

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中国当代儿科杂志 ›› 2019, Vol. 21 ›› Issue (6) : 585-588. DOI: 10.7499/j.issn.1008-8830.2019.06.016

论著·病例分析

歪嘴哭面容、声带麻痹合并先天性心脏病

魏红玲, 朴梅花, 张娟, 刘玲, 常艳美

作者信息 +

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

WEI Hong-Ling, PIAO Mei-Hua, ZHANG Juan, LIU Ling, CHANG Yan-Mei

Author information +

文章历史 +

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.

导出引用

魏红玲, 朴梅花, 张娟, 刘玲, 常艳美. 歪嘴哭面容、声带麻痹合并先天性心脏病[J]. 中国当代儿科杂志. 2019, 21(6): 585-588 https://doi.org/10.7499/j.issn.1008-8830.2019.06.016

WEI Hong-Ling, PIAO Mei-Hua, ZHANG Juan, LIU Ling, CHANG Yan-Mei. Asymmetric crying facies and vocal cord paralysis accompanied by congenital heart disease in an infant[J]. Chinese Journal of Contemporary Pediatrics. 2019, 21(6): 585-588 https://doi.org/10.7499/j.issn.1008-8830.2019.06.016

参考文献

[1] Shargorodsky J, Lin HW, Gopen Q. Facial nerve palsy in the pediatric population[J]. Clin Pediatr (Phila), 2010, 49(5):411-417.
[2] Verzijl HT, van der Zwaag B, Lammens M, et al. The neuropathology of hereditary congenital facial palsy vs Möbius syndrome[J]. Neurology, 2005, 64(4):649-653.
[3] Lima K, Abrahamsen TG, Foelling I, et al. Low thymic output in the 22q11.2 deletion syndrome measured by CCR9⁺CD45RA⁺ T cell counts and T cell receptor rearrangement excision circles[J]. Clin Exp Immunol, 2010, 161(1):98-107.
[4] Bogusiak K, Puch A, Arkuszewski P. Goldenhar syndrome:current perspectives[J]. World J Pediatr, 2017, 13(5):405-415.
[5] Dubnov-Raz G, Merlob P, Geva-Dayan K, et al. Increased rate of major birth malformations in infants with neonatal "asymmetric crying face":a hospital-based cohort study[J]. Am J Med Genet A, 2007, 143(4):305-310.
[6] McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome[J]. Nat Rev Dis Primers, 2015, 1:15071.
[7] Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome:the chromosome 22q11.2 deletion syndromes[J]. Lancet, 2007, 370(9596):1443-1452.
[8] 罗开菊, 陈平洋, 李雯. 新生儿DiGeorge综合征1例报告[J].中国当代儿科杂志, 2014, 16(9):949-951.
[9] Sapin SO, Miller AA, Bass HN. Neonatal asymmetric crying facies:a new look at an old problem[J]. Clin Pediatr (Phila), 2005, 44(2):109-119.
[10] Rioja-Mazza D, Lieber E, Kamath V, et al. Asymmetric crying facies:a possible marker for congenital malformations[J]. J Matern Fetal Neonatal Med, 2005, 18(4):275-277.
[11] de Gaudemar I, Roudaire M, François M, et al. Outcome of laryngeal paralysis in neonates:a long-term retrospective study of 113 cases[J]. Int J Pediatr Otorhinolaryngol, 1996, 34(1-2):101-110.
[12] Lesnik M, Thierry B, Blanchard M, et al. Idiopathic bilateral vocal cord paralysis in infants:case series and literature review[J]. Laryngoscope, 2015, 125(7):1724-1728.
[13] Kanemoto N, Kanemoto K, Kamoda T, et al. A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis[J]. Eur J Pediatr, 2007, 166(8):831-833.
[14] Pasick C, McDonald-McGinn DM, Simbolon C, et al. Asymmetric crying facies in the 22q11.2 deletion syndrome:implications for future screening[J]. Clin Pediatr (Phila), 2013, 52(12):1144-1148.
[15] Karagol BS, Zenciroglu A. Asymmetric crying facies with a couple of primary mandibular central incisor and 22q11 deletion[J]. J Clin Pediatr Dent, 2010, 34(4):343-345.
[16] 陆澄秋, 庄晓磊, 储晨, 等. 歪嘴哭面容新生儿临床特征及随访研究[J].中国当代儿科杂志, 2012, 14(12):913-917.
[17] Burnside RD. 22q11.21 deletion syndromes:a review of proximal, central, and distal deletions and their associated features[J]. Cytogenet Genome Res, 2015, 146(2):89-99.
[18] Isken T, Gunlemez A, Kara B, et al. Botulinum toxin for the correction of asymmetric crying facies[J]. Aesthet Surg J, 2009, 29(6):524-527.