ABSTRACT
Holoprosencephaly is a brain pathology, with a significant phenotypic variability, that is characterized by forebrain and face development alterations. Prenatal diagnosis for this type of condition is relevant because the main features, included the facial ones, can be detected earlier and may support decisions concerning the management of the pregnancy, for the severe forms, or, may afford an early treatment plan for the less forms. In the case reported the ultrasound study of the fetal face detected the presence of an orofacial cleft that together with the identification of the typical brain defect of holoprosencephaly contribute for the final diagnosis. Therefore with this case is intended to highlight for the main facial features prevalent on this situations detectible by ultrasound evaluation and for the relevance of this type of screening to an earlier prenatal diagnosis.
