ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012 / Frequency of holoprosencephaly in Chile
Rev. méd. Chile
;
143(7): 874-879, jul. 2015. tab
Artigo
em Espanhol
| LILACS
| ID: lil-757912
ABSTRACT
Background:
Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity.Aim:
To estimate holoprosencephaly prevalence at birth. Patients andMethods:
All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied. Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described.Results:
Fifty five cases of holoprosencephaly (58% males) were found among the 798.222 registered births (rendering a prevalence at birth of 0.69 per 10.000 newborns). The most common cranial defect was medial cleft lip with cleft palate (27.3%), bilateral cleft lip (11%) or both (38.2%), cyclopia (14%), single nostril (10.9%) and proboscis (9.1%). Eleven percent cases had a trisomy 13. A slight increase in prevalence over time was observed.Conclusions:
Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Holoprosencefalia
Tipo de estudo:
Estudo de etiologia
/
Estudo de prevalência
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2015
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Hospital Clínico Universidad de Chile/CL
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