Background: Ectopia Cordis (EC) is a rare congenital condition where the heart partially or completely lies outside thoracic cavity (extrathoracic), uncovered by pericardium and skin. Many works of literature reported EC abnormality with an incidence about 5-8 per 1 million live births includes 0.1% diseases. Methods: This was male baby, weighing 2.900 kg, received cyanosis defect in anterior c...

Marfan syndrome, homocystinuria, trauma, and simple ectopia lentis are the most common causes of pediatric lens subluxation. Many patients are best treated with a careful refraction of the phakic or aphakic pupillary axis. For those patients not achieving satisfactory refractive results, endocapsular lensectomy using modern automated vitreous cutting devices is relatively safe and successful. G...

The Ectopia lentis et pupillae is a rare genetic syndrome, congenital, autosomal recessive with variable expression, characterized by ectopia of the lens and the pupil, usually bilateral and symmetrical, but without systemic manifestations. The pathogenesis of this anomaly is still unknown, but there are theories that the change is mesodermal, neuroectodermal, combined or mechanical. This artic...

To cite: Martins CF, Serras I, Santos AV, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2014-207556 DESCRIPTION A healthy 25-year-old primigravida, without a history of teratogenic exposition, presented to our hospital with a first trimester routine ultrasonographic examination showing two major fetal defects: gastrosquisis (figure 1 and video 1) and ect...

We report the prenatal diagnosis of Cantrell syndrome in the first trimester. During a routine transabdominal ultrasonographic examination, a midline supraumbilical abdominal wall defect including herniated liver and ectopia cordis with a large omphalocele containing the intestines and cystic hygroma was incidentally identified at the 12th week of gestation. A transvaginal sonography examinatio...

Congenital right ventricular diverticulum is an extremely rare form of congenital heart disease (CHD), often associated with pericardial effusion, for which little information exists regarding optimal management, natural history, or prognosis [1]. The first case in history was described in 1838 by O’Bryan [2] in a patient affected by Ectopia cordis. Right ventricular outpouches are less common ...