Recessive-type holoprosencephaly in an endogamic Colombian family

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Andreina Zannin
Luis Gustavo Celis
Isabel Fernández
Humberto Ossa
María Camila Garzon
Samantha Mayorga
Luz Ángela Murillo
Paola Gabriela Zuleta

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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How to Cite
Zannin, A., Celis, L. G., Fernández, I., Ossa, H., Garzon, M. C., Mayorga, S., … Zuleta, P. G. (2021). Recessive-type holoprosencephaly in an endogamic Colombian family. Pediatría, 54(1), 36–39. https://doi.org/10.14295/rp.v54i1.190
Section
Case report

References

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