Background Diagnosis of congenital heart disease (CHD) in neonates with extra cardiac anomalies is effective in their clinical management and surgical outcomes. This study aimed to investigate the frequency of CHD in neonates with extra cardiac anomalies admitted to a neonatal intensive care unit (NICU). Material...

BACKGROUND Persistent left superior vena cava (PLSVC) is a variant of systemic venous return which is observed in 0.3% of autopsies in the general population and in 4-8% of patients with congenital heart disease. AIMS To evaluate associated cardiac, extracardiac and chromosomal anomalies in prenatally diagnosed cases of PLSVC and to review their outcome. STUDY DESIGN Retrospective comparati...

OBJECTIVE To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). METHODS 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal mic...

Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnost...

introduction: orofacial clefts are among the most common congenital anomalies. patients presenting with orofacial clefts often require surgery or other complex procedures. a cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. the reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnost...

Multiple thoracic vascular anomalies have been described in the setting of Turner syndrome. Careful evaluation of both venous and arterial anatomy in the chest is prudent when evaluating these cases. By highlighting the less commonly associated vascular malformations in Turner syndrome through key images, we intend to raise awareness and familiarity of these potentially clinically significant a...

Cardiac anomalies are the most frequent congenital malformations and it has been shown that prenatal diagnosis has a major impact on the prenatal and postnatal management of affected pregnancies. Technical improvements and highly skilled operators, have demonstrated that early echocardiography, at 11-14 weeks scan, is feasible and a significant proportion of cardiac lesions present with abnorma...

BACKGROUND Accurate assessment of intra- as well as extra-cardiac malformations and radiation dosage concerns are especially crucial to infants and children with interrupted aortic arch (IAA). The purpose of this study is to investigate the value of prospective electrocardiogram (ECG)-triggered dual-source computed tomography (DSCT) angiography with low-dosage techniques in the diagnosis of IAA...