Recessive-type holoprosencephaly in an endogamic Colombian family
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Abstract
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.
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