The septum pellucidum is a non-neural dual membrane structure originating from the medial parts of the cerebral hemispheres. Right and left leaves of the septum are separated by a cavity in fetal life, which gradually becomes thinner and obliterated. Its posterior extension is the cavum vergae. The roof is formed by the corpus callosum and the hippocampal commissure, and posterior and inferior ...

OBJECTIVE to characterize nutritional status and variables that predict nutritional changes in children with congenital heart disease. METHOD a cross-sectional study undertaken in two health institutions between January and June 2009, using a questionnaire with questions about nutrition, applied to 132 children under two years of age who had congenital heart disease. Children who had addition...

Objective Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare and heterogeneous disease of autosomal recessive inheritance characterized by the generalized absence of adipose tissue at birth and severe adverse metabolic consequences. The identified causative genes for CGL include 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), Berardinelli-Seip congenit...

BACKGROUND There are different variations in the anatomy of the gallbladder. Congenital abnormalities of the gallbladder such as agenesis and hypoplasia are rare conditions and difficult to diagnose with imaging studies. Patients are usually asymptomatic or have symptoms that mimic gallstone disease. The diagnosis is often made intraoperatively and is established by histopathological examinatio...

ATRIAL SEPTAL DEFECTS (ASD) ACCOUNT FOR 5% TO 10% OF ALL CASES OF CONGENITAL heart disease and as many as 30% of cases of congenital heart disease presenting in adulthood. These defects make up a spectrum of interesting and distinct entities. The ostium secundum ASD accounts for 70% to 80% of all adult ASDs. Other less common forms of adult ASDs include ostium primum ASD (15% of ASDs), sinus ve...

BACKGROUND To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC), mental retardation (MR) and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families. METHODS We screened four genes implicated in congenital cataract by direct sequencing in two groups of patients; those affected by ARCC associated to MR and those who p...