The phenotypic spectrum of congenital Zika syndrome.
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.
Division of Dysmorphology and Teratology, Department of Pediatrics, UCSD, San Diego, California.
Miguel
M
Del Campo
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.
Ian M L
IM
Feitosa
Hospital Infantil Albert Sabin, Fortaleza, Ceara, Brazil.
Erlane M
EM
Ribeiro
Instituto Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
Dafne D G
DD
Horovitz
Hospital Infantil Albert Sabin, Fortaleza, Ceara, Brazil.
André L S
AL
Pessoa
Secretariat of Health Surveillance, Ministry of Health, Brasilia, Brazil.
Giovanny V A
GV
França
Institut de Recerca Pediàtrica Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
Alfredo
A
García-Alix
Hospital Infantil Dr. Juvêncio Mattos, São Luiz, Brazil.
Maria J R
MJ
Doriqui
Secretaria de Estado da Saúde do Espírito Santo, Vitória, Brazil.
Hector Y C
HY
Wanderley
SIAT-Brazilian Teratogen Information Service, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Maria V T
MV
Sanseverino
Universidade Potiguar, Natal, Brazil.
João I C F
JI
Neri
Faculdade de Medicina de Ribeirao Preto, Departamento de Genetica, Universidade de Sao Paolo, Ribeirao Preto, Brazil.
João M
JM
Pina-Neto
Universidade Federal de Sergipe, Lagarto, Brazil.
Emerson S
ES
Santos
Centro de Aperfeiçoamento Visual Ver a Esperança Renascer/CAVIVER, Fortaleza, Brazil.
Islane
I
Verçosa
Departamento de Genetica Medica, Universidade Federal de Sao Paolo (UNIFESP), Sao Paolo, Brazil.
Mirlene C S P
MC
Cernach
Universidade Federal de Campina Grande, Campina Grande, Paraiba, Brazil.
Paula F V
PF
Medeiros
Hospital Infantil Albert Sabin, Fortaleza, Ceara, Brazil.
Saile C
SC
Kerbage
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.
André A
AA
Silva
Associação de Assistência à Criança Deficiente/AACD, Recife, Brazil.
Vanessa
V
van der Linden
Centro de Pesquisas Aggeu Magalhães, Fundação Oswaldo Cruz, Recife, Brazil.
Celina M T
CM
Martelli
Centro de Pesquisas Aggeu Magalhães, Fundação Oswaldo Cruz, Recife, Brazil.
Marli T
MT
Cordeiro
Centro de Pesquisas Aggeu Magalhães, Fundação Oswaldo Cruz, Recife, Brazil.
Rafael
R
Dhalia
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.
Fernanda S L
FS
Vianna
Graduate Program in Epidemiology, Federal University of Pelotas, Pelotas, Rio Grande do Sul, Brazil.
Cesar G
CG
Victora
Departamento de Genetica Medica, Universidade de Campinas UNICAMP, Campinas, Brazil.
Denise P
DP
Cavalcanti
Departamento de Genetica, Universidade Federal de Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.|Universidade Potiguar, Natal, Brazil.
Lavinia
L
Schuler-Faccini
D000914:Antibodies, Viral / Q000134:cerebrospinal fluid; D001921:Brain / Q000002:abnormalities / Q000821:virology; D001938:Brazil / Q000453:epidemiology; D004196:Disease Outbreaks; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000473:pathology; D005333:Fetus; D006801:Humans; D007074:Immunoglobulin G / Q000134:cerebrospinal fluid; D007223:Infant; D008831:Microcephaly / Q000150:complications / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000473:pathology; D059906:Neuroimaging; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious / Q000175:diagnosis / Q000453:epidemiology* / Q000473:pathology; D013577:Syndrome; D000071244:Zika Virus / Q000254:growth & development / Q000276:immunology / Q000472:pathogenicity; D000071243:Zika Virus Infection / Q000150:complications / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000473:pathology
D000914:Antibodies, Viral; D007074:Immunoglobulin G
Zika virus; congenital Zika infection; congenital Zika sequence; congenital Zika syndrome; disruption; disruptive sequence; dysmorphology; fetal brain disruption sequence; teratogen; teratology