Holoprosencefalia de tipo recesivo en una familia endogámica Colombiana.

Holoprosencephaly is a complex congenital brain anomaly resulting from an incomplete division of the prosenceral gland, generating a total or partial absence of separation of the cerebral hemispheres, manifesting itself clinically in different craniofacial malformations. This article presents the case of a female newborn baby, in whom a complete clinical history and physical examination were performed, observing the main phenotypical characteristics of this congenital anomaly as well as blood samples and complementary studies. This pathology has a heterogeneous and varied etiology and there are few cases related to an autosomal recessive inheritance. Therefore, it is important to bet on an early prenatal diagnosis and to provide a multidisciplinary and genetic counseling giving an adequate information to the parents.