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Defining dysmorphic facial features in congenital Zika syndrome
American Journal of Medical Genetics Part A ( IF 2 ) Pub Date : 2020-11-20 , DOI: 10.1002/ajmg.a.61980
Cristiane Sá Roriz Fonteles 1 , Francisco César Monteiro 1 , Rebeca Bastos Vasconcelos 1 , André Jalles Monteiro 2 , Cauby Maia Chaves Júnior 1 , Felipe Franco Marçal 1 , Renata Asfor Rocha Carvalho Martins 1 , Ana Lalessa Pereira de Oliveira 3 , Grisielle de Sá Cavalcante 1 , Bianca Palhano Toscano 1 , Thayse Elaine Costa Figueiredo Lopes 4 , Fabio Wildson Gurgel Costa 1 , Thyciana Rodrigues Ribeiro 1 , Islane Maria Castro Verçosa 5 , André Luiz Santos Pessoa 6 , Luciano Pamplona de Góes Cavalcanti 7 , Erlane Marques Ribeiro 6
Affiliation  

Congenital Zika syndrome (CZS) constitutes a recently identified malformation caused by Zika virus infection during pregnancy. Limited data is available to date on the facial dysmorphic features of these patients. This study evaluated the facial dysmorphisms of children with CZS, compared with clinically healthy children, using clinical examination and standardized photographic images. Sixty‐three children with CZS (9.70 ± 3.2 months‐age), and 31 Controls (8.67 ± 6.2 months‐age) joined the study. Seven out of 15 indices differed between groups: midfacial height (MFH)/horizontal facial reference (HFR) (p = .0003), interalar distance/HFR (p = .0027), nasal root depth/MFH (p = .0030), posterior nasal length/MFH (p = .0002), vertical position of the ear/MFH (p <.0001), ear length/MFH (p = .0005), chin height/total facial height (CH/TFH) (p <.0001). A CH/TFH of 0.229 showed 93.9% sensitivity and 80.6% specificity in diagnosing CZS. Children with CZS had broad, short faces, decreased intercanthal distance, short posterior nasal length, prominent nasal root, broad nasal wings, and high‐set and long ears. Increased chin height index provided the most accurate diagnostic potential.

中文翻译:

定义先天性寨卡综合征的畸形面部特征

先天性寨卡综合征(CZS)构成了最近发现的妊娠期寨卡病毒感染引起的畸形。迄今为止,有关这些患者的面部畸形特征的数据有限。这项研究使用临床检查和标准化的摄影图像评估了CZS儿童与临床健康儿童的面部畸形。六十三名患有CZS的儿童(9.70±3.2个月大)和31名对照(8.67±6.2个月大)参加了研究。15个指标中的七个在不同组之间有所不同:面中高度(MFH)/水平面部参考(HFR)(p = .0003),距间距离/ HFR(p = .0027),鼻根深度/ MFH(p = .0030) ,鼻后长度/ MFH(p= .0002),耳朵的垂直位置/ MFH(p <.0001),耳朵长度/ MFH(p = .0005),下巴高度/面部总高度(CH / TFH)(p <.0001)。CH / TFH为0.229,在诊断CZS时显示出93.9%的敏感性和80.6%的特异性。患有CZS的儿童的面部宽而短,鼻间距离减小,后鼻长度短,鼻根突出,鼻翼宽,耳朵高而耳朵长。下巴高度指数的提高提供了最准确的诊断潜力。
更新日期:2021-01-12
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