[Frequency of holoprosencephaly in Chile].

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 AND METHODS:

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).

• Authors: Julio Nazer Herrera, Lucía Cifuentes Ovalle, Andrea Cortez López
• Journal: Revista medica de Chile (Rev Med Chil) Vol. 143 Issue 7 Pg. 874-9 (Jul 2015) ISSN: 0717-6163 [Electronic] Chile
• Vernacular Title: ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012.
• PMID: 26361024 (Publication Type: Journal Article)

Topics

• Adolescent
• Adult
• Chile (epidemiology)
• Cleft Lip (epidemiology, etiology)
• Cleft Palate (epidemiology, etiology)
• Female
• Holoprosencephaly (classification, complications, epidemiology)
• Humans
• Live Birth
• Male
• Maternal Age
• Prevalence
• Sex Factors
• Stillbirth
• Young Adult