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The phenotypic spectrum of congenital Zika syndrome

2017; Wiley; Volume: 173; Issue: 4 Linguagem: Inglês

10.1002/ajmg.a.38170

1552-4833

Miguel Del Campo, Ian M. L. Feitosa, Erlane Marques Ribeiro, Dafne Dain Gandelman Horovitz, André Luiz Santos Pessoa, Giovanny Vinícius Araújo de França, Alfredo Garcı́a-Alix, Maria Juliana R. Doriqui, Héctor Yuri Conti Wanderley, Maria V. T. Sanseverino, Joao Ivanildo Neri, João Monteiro de Pina Neto, Emerson Soares dos Santos, Islane Verçosa, Mirlene Cecília Soares Pinho Cernach, Paula Frassinetti Vasconcelos de Medeiros, Sáile Cavalcante Kerbage, André A. Silva, Vanessa van der Linden, Celina Maria Turchi Martelli, Marli Tenório Cordeiro, Rafael Dhália, Fernanda Sales Luiz Vianna, César G. Victora, Denise P. Cavalcanti, Lavínia Schüler‐Faccini,

Virology and Viral Diseases

In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM‐ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM‐ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF. A recognizable phenotype of microcephaly, anomalies of the shape of skull and redundancy of the scalp consistent with the Fetal Brain Disruption Sequence (FBDS) was present in 70% of infants, but was most often subtle. In addition, features consistent with fetal immobility, ranging from dimples (30.1%), distal hand/finger contractures (20.5%), and feet malpositions (15.7%), to generalized arthrogryposis (9.6%), were present in these infants. Some cases had milder microcephaly or even a normal head circumference (HC), and other less distinctive findings. The detailed observation of the dysmorphic and neurologic features in these infants provides insight into the mechanisms and timings of the brain disruption and the sequence of developmental anomalies that may occur after prenatal infection by the ZIKV.