cornelia de lange syndrome (cdls) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. the diagnosis of this syndrome is clinical. the patient of the present case report was the second case of cdls from iran ; only a few ca...

The population of neonates and children with congenital heart defects presents about a 30% prevalence of associated genetic syndrome or additional extracardiac anomalies and may show an increased risk of death or major complication at cardiac surgery. Since a well-defined pattern of combined cardiac and extracardiac anomalies may be found in relation to specific genetic defects, correct underst...

In lymphedema, various types of congenital and acquired anomalies opened vessels nodes are observed. They often lead to cardiac hypertension, valvular insufficiency, lymphedema. Today, secondary lymphostasis ranks first among the pathologies system extremities. The etiology this situation, which results in a mechanical disease current lymphatic system, is very different. However, most common ca...

Gerbode defects are a very rare anomalies, characterized by direct communication between left ventricle (LV) and right atrium (RA). Most congenital, but they can also be acquired following destructive heart diseases, such as infective endocarditis, myocardial infarction, trauma, or cardiac surgery. In this paper, we report the case of 35 years-old patient hospitalized for management an endocard...

Ectopia cordis (EC) is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen. It can be defined as a complete or partial displacement of the heart outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. Common cardiac anomalies associated with EC are ventricular septal defect, atrial septal defect, and tetralogy of Fa...

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the impo...

= Abstract = Sewn years' experience of fetal echocardiography was reviewed to assess the diagnostic accuracy of fetal echocardiography, distribution of individual cardiac anomalies, and some practical problems of fetal echocardiography in Korea. A total of 737 fetuses IMlre examined and 45 confirmed and 20 unconfirmed cardiac structural anomalies IMlre identified. In general, fetal echocardiogr...

the incidence of stone disease among patients with congenital renal anomalies including malrotated kidney is more than in normal population due to poor urine drainage and stasis (1). various minimally invasive options have been used for the management. ureteroscopy and holmium:yag laser lithotripsy have been reported with favorable outcomes (2). we report a 30-year-old male who presented to our...

Now-a-days truncus arteriosus has been known as "common arterial trunk" (CAT) and is an uncommon congenital cardiac defect presenting in about 1-3% congenital heart disease. Environmental and genetic factors effects on incidence of CAT and other conotruncal anomalies. The majority patients with CAT and 22q11 deletion have other anomalies such as hypoplasia or aplasia of the thymus or parathyroi...