Cornelia De Lange Syndrome.

Abstract

ABSTRACT

The purpose of this article is to show the characteristics of Cornelia de Lange Syndrome with respect to a clinical case, in a patient treated at the Carlos Andrade Marín Specialty Hospital. Introduction: Cornelia de Lange Syndrome is a rare, genetically heterogeneous developmental disorder that is defined in its classic form by antenatal and postnatal hypogrowth, microcephaly, distinctive facial features, synofridia and hirsutism, mental retardation and micromelia. Next, data on a patient diagnosed with this syndrome and some of its complications will be summarized. Clinical case: An older infant with a history of prenatal growth delay, phenotypically presents the classic characteristics of Cornelia Lange Syndrome. Her early diagnosis made it possible to identify complications and for the girl to receive multidisciplinary treatment, unfortunately the girl died of an intestinal obstruction with subsequent cardiac arrest. Discussion: Because it´s a Syndrome with interesting characteristics and because of the few information available in the country, we consider that the investigation and the report of cases of this pathology should continue. Conclusions: It is necessary to carry out preventive medicine from the moment of pregnancy, with timely and accurate diagnosis to achieve effective multidisciplinary treatment that avoids complications and the possible death of patients with SCdL.