The phenotypic spectrum of congenital Zika syndrome


Por: Del Campo M, Feitosa IM, Ribeiro EM, Horovitz DD, Pessoa AL, França GV, García-Alix A, Doriqui MJ, Wanderley HY, Sanseverino MV, Neri JI, Pina-Neto JM, Santos ES, Verçosa I, Cernach MC, Medeiros PF, Kerbage SC, Silva AA, van der Linden V, Martelli CM, Cordeiro MT, Dhalia R, Vianna FS, Victora CG, Cavalcanti DP, Schuler-Faccini L and Zika Embryopathy Task Force-Brazilian Society of Medical Genetics ZETF-SBGM

Publicada: 1 abr 2017
Resumen:
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.

Filiaciones:
Del Campo M:
 Division of Dysmorphology and Teratology, Department of Pediatrics, UCSD, San Diego, California

Feitosa IM:
 Departamento de Genetica, Universidade Federal de Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

 Departamento de Medicina Clínica, Universidade Federal de Pernambuco, Recife, Brazil

Ribeiro EM:
 Hospital Infantil Albert Sabin, Fortaleza, Ceara, Brazil

Horovitz DD:
 Instituto Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil

Pessoa AL:
 Hospital Infantil Albert Sabin, Fortaleza, Ceara, Brazil

França GV:
 Secretariat of Health Surveillance, Ministry of Health, Brasilia, Brazil

García-Alix A:
 Institut de Recerca Pediàtrica Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain

Doriqui MJ:
 Hospital Infantil Dr. Juvêncio Mattos, São Luiz, Brazil

Wanderley HY:
 Secretaria de Estado da Saúde do Espírito Santo, Vitória, Brazil

Sanseverino MV:
 SIAT-Brazilian Teratogen Information Service, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

Neri JI:
 Universidade Potiguar, Natal, Brazil

Pina-Neto JM:
 Faculdade de Medicina de Ribeirao Preto, Departamento de Genetica, Universidade de Sao Paolo, Ribeirao Preto, Brazil

Santos ES:
 Universidade Federal de Sergipe, Lagarto, Brazil

Verçosa I:
 Centro de Aperfeiçoamento Visual Ver a Esperança Renascer/CAVIVER, Fortaleza, Brazil

Cernach MC:
 Departamento de Genetica Medica, Universidade Federal de Sao Paolo (UNIFESP), Sao Paolo, Brazil

Medeiros PF:
 Universidade Federal de Campina Grande, Campina Grande, Paraiba, Brazil

Kerbage SC:
 Hospital Infantil Albert Sabin, Fortaleza, Ceara, Brazil

Silva AA:
 Departamento de Genetica, Universidade Federal de Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

 SIAT-Brazilian Teratogen Information Service, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

 UNIVATES University, Porto Alegre, Rio Grande do Sul, Brazil

van der Linden V:
 Associação de Assistência à Criança Deficiente/AACD, Recife, Brazil

Martelli CM:
 Centro de Pesquisas Aggeu Magalhães, Fundação Oswaldo Cruz, Recife, Brazil

Cordeiro MT:
 Centro de Pesquisas Aggeu Magalhães, Fundação Oswaldo Cruz, Recife, Brazil

Dhalia R:
 Centro de Pesquisas Aggeu Magalhães, Fundação Oswaldo Cruz, Recife, Brazil

Vianna FS:
 Departamento de Genetica, Universidade Federal de Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

 SIAT-Brazilian Teratogen Information Service, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

Victora CG:
 Graduate Program in Epidemiology, Federal University of Pelotas, Pelotas, Rio Grande do Sul, Brazil

Cavalcanti DP:
 Departamento de Genetica Medica, Universidade de Campinas UNICAMP, Campinas, Brazil

Schuler-Faccini L:
 Departamento de Genetica, Universidade Federal de Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil

 Universidade Potiguar, Natal, Brazil
ISSN: 15524825





AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Editorial
WILEY, 111 RIVER ST, HOBOKEN 07030-5774, NJ, Estados Unidos America
Tipo de documento: Article
Volumen: 173 Número: 4
Páginas: 841-857
WOS Id: 000397855700003
ID de PubMed: 28328129
imagen Open Access

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