Síndrome de Edwards

Abstract

This work presents the study of Edwards Syndrome, a poli bad formative syndrome consequence of an anomaly chromosome characterized by an extra chromosome (47xy), is presented more in women than in men in a relationship of 2 to 1 and 95% die in the first-year life. The present clinical case was presented at the IESS Latacunga Hospital, a minor infant without significant family medical history, with a prenatal medical history of magnetic cistern diagnosed by ultrasound at 38 weeks of gestation, born by cesarean, is kept in incubator closed for presenting respiratory distress, with bubble CPAP for 15 days and probe orogastric by poor suction and sometimes intolerance to feeding, remain dependent on oxygen during all his Hospitalization. At the current physical examination it finds a small front prominent occiput, bilateral opaque retina, micrognathia, abnormal dermatoglyphic. An echocardiogram is performed in which pulmonary hypertension is diagnosed, interatrial communication, interventricular communication, study cytogenetic reveals normal Karyotype 46xy, by the characteristics phenotypical would be talking about an Edwards syndrome.