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Am J Med Genet A. 2017 Apr;173(4):841-857. doi: 10.1002/ajmg.a.38170.

The phenotypic spectrum of congenital Zika syndrome.

Author information

1
Division of Dysmorphology and Teratology, Department of Pediatrics, UCSD, San Diego, California.
2
Departamento de Genetica, Universidade Federal de Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
3
Departamento de Medicina Clínica, Universidade Federal de Pernambuco, Recife, Brazil.
4
Hospital Infantil Albert Sabin, Fortaleza, Ceara, Brazil.
5
Instituto Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
6
Secretariat of Health Surveillance, Ministry of Health, Brasilia, Brazil.
7
Institut de Recerca Pediàtrica Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
8
Hospital Infantil Dr. Juvêncio Mattos, São Luiz, Brazil.
9
Secretaria de Estado da Saúde do Espírito Santo, Vitória, Brazil.
10
SIAT-Brazilian Teratogen Information Service, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
11
Universidade Potiguar, Natal, Brazil.
12
Faculdade de Medicina de Ribeirao Preto, Departamento de Genetica, Universidade de Sao Paolo, Ribeirao Preto, Brazil.
13
Universidade Federal de Sergipe, Lagarto, Brazil.
14
Centro de Aperfeiçoamento Visual Ver a Esperança Renascer/CAVIVER, Fortaleza, Brazil.
15
Departamento de Genetica Medica, Universidade Federal de Sao Paolo (UNIFESP), Sao Paolo, Brazil.
16
Universidade Federal de Campina Grande, Campina Grande, Paraiba, Brazil.
17
UNIVATES University, Porto Alegre, Rio Grande do Sul, Brazil.
18
Associação de Assistência à Criança Deficiente/AACD, Recife, Brazil.
19
Centro de Pesquisas Aggeu Magalhães, Fundação Oswaldo Cruz, Recife, Brazil.
20
Graduate Program in Epidemiology, Federal University of Pelotas, Pelotas, Rio Grande do Sul, Brazil.
21
Departamento de Genetica Medica, Universidade de Campinas UNICAMP, Campinas, Brazil.

Abstract

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.

KEYWORDS:

Zika virus; congenital Zika infection; congenital Zika sequence; congenital Zika syndrome; disruption; disruptive sequence; dysmorphology; fetal brain disruption sequence; teratogen; teratology

PMID:
28328129
DOI:
10.1002/ajmg.a.38170
[Indexed for MEDLINE]

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