Abstract
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. To estimate holoprosencephaly prevalence at birth. 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. 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. 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).
Highlights
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
Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described
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%)
Summary
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. Es la forma clínica más leve de HPE y se caracteriza por la separación de los hemisferios cerebrales y los ventrículos laterales izquierdo y derecho con algún grado de fusión del neocórtex frontal. La forma de HPE alobar es la que se puede diagnosticar más fácilmente debido a la mayor severidad de sus anomalías, que se caracterizan por presentar un ventrículo central único sin eco medio, ausencia de los cuernos anteriores, posteriores e inferiores de los ventrículos laterales, ausencia de cuerpo calloso y del septum pellucidum y del tercer ventrículo[11,12]. En los casos leves de HPE lobar es necesario corregir algunas anomalías, como el Labio leporino y fisura palatina para darle una oportunidad de mejor alimentación. Ha tenido algún grado de variabilidad a través del tiempo y que factores pudieran haber influido en ello
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
