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
Article
in Spanish
| LILACS
| ID: lil-757912
Responsible library:
CL1.1
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).
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Holoprosencephaly
Type of study:
Etiology study
/
Prevalence study
/
Risk factors
/
Screening study
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Chile
Language:
Spanish
Journal:
Rev. méd. Chile
Journal subject:
Medicine
Year:
2015
Document type:
Article
Affiliation country:
Chile
Institution/Affiliation country:
Hospital Clínico Universidad de Chile/CL