Proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, miscellaneous skin and vascular nevi, skeletal and nervous system and eye malformations, with characteristic manifestations including hemihypertrophy, local gigantism, macrodactyly and cerebriform thickness of soles and palms. A 23 year-old man with diagnosis of proteus syndrome had sever ane...

The affinity of some chromosomal anomalies for certain types of congenital heart disease is well known, e.g. atrioventricular defects in Down's syndrome and coarctation of the aorta in Turner's syndrome. Many reports on several types of congenital heart disease in close or more distant family relationships have aroused suspicion that genetic factors may be important also in other patients. Repo...

CANTRELL SYNDROME IS A VERY RARE CONGENITAL DISEASE ASSOCIATING FIVE FEATURES: a midline, upper abdominal wall disorder, lower sternal abnormality, anterior diaphragmatic defect, diaphragmatic pericardial abnormality, and congenital abnormalities of the heart. In this paper, we report a case of partial Cantrell's syndrome with left ventricular diverticulum, triatrial situs solitus, ventricular ...

We present a case report about percutaneous closure of a congenital Gerbode defect using Nit-Occlud® Lê VSD coil. The patient was referred to our hospital with a diagnosis of ventricular septal defect (VSD) and severe pulmonary arterial hypertension. But transthoracic echocardiography revealed a communication between the left ventricle (LV) and the right atrial (RA), called Gerbode defect. Cath...

Internal hernia is one of the rare causes of small bowel obstruction. A congenital mesenteric defect is very rare, but can potentially cause internal hernia with consequent incarceration or strangulation of the small intestine. An 18-year-old woman was brought to our emergency department with sudden onset lower abdominal pain. She had no remarkable past medical history and took no medications. ...

Spontaneous cerebrospinal fluid (CSF) otorrhea is defined as CSF otorrhea where there are no identifiable causes including previous trauma, surgery, infection, neoplasm or congenital anomaly. The condition is rare. The origin of CSF leak is commonly a defect in the tegmen of the middle cranial fossa. The pathophysiology of spontaneous CSF otorrhea is unclear. Two theories of the etiology of bon...

Introduction: Hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2–4 cases per 1,000 live births. Sensory-neural hearing loss (SNHL) accounts for more than 90% of all hearing loss. This disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. Given that congenital heart diseases are life-thre...

STUDY DESIGN Retrospective study. PURPOSE To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. OVERVIEW OF LITERATURE Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with id...

Incidence Congenital diaphragmatic hernia (CDH) refers to a congenital defect in the posterolateral diaphragm at the “foramen of Bochdalek.” It is a relatively common cause of neonatal respiratory distress with an overall incidence between 1:2000 and 1:5000 live births. CDH accounts for about 90% of congenital diaphragmatic defects. Eighty to ninety percent of congenital diaphragmatic hernias o...

Coarctation of the aorta (CoA) is a common congenital anomaly that is usually treated in infancy or childhood. Adult patients with coarctation have a high incidence of associated cardiac disorders, including valve diseases, atrial fibrillation and ischemic heart disease. Most patients with uncorrected CoA die before reaching the age of 50 from complications such as myocardial infarction, intrac...