Congenital heart defects are the most common malformations at birth. Due to the fact that the developmental windows at early stages close rapidly, the aim of this study was to determine the impact of congenital heart defects on the central nervous system at short and medium terms after applying traditional and quantitative electroencephalography techniques and a test of neurodevelopment. Twenty...

DEFINITION Cardiofaciocutaneous (CFC) syndrome is a relatively rare genetic disorder first described by Reynolds et al. in 1986 based on the observation of eight unrelated patients with very similar facial appearance characterized by unusually sparse, brittle, curly hair, large head (macrocephaly), a prominent forehead, and abnormal narrowing of the sides of the forehead (bitemporal constrictio...

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be dia...

Neonatal lupus erythematosus is an autoimmune disorder mainly affecting the heart and skin. It is the most common cause of congenital heart block. In addition, hematological, hepatobiliary and neurological involvement may occur. Herein, we report a 23-day-old infant presented with annular, erythematous, and scaly and atrophic lesions on the face and trunk. Based on the clinical, laboratory and ...

Partial monosomy 10p is a rare chromosomal disorder characterised by frontal bossing, micrognathia, congenital heart defects, vesicoureteral abnormalities, and developmental delay. This is the first report to describe seizures not associated with hypocalcaemia, as well as cortical atrophy and decreased white matter volume on magnetic resonance imaging, in a patient with documented partial monos...

OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, retinal pigmentation changes, retinal flecks corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes eyelids, anomalies ...

the majority of coronary artery fistulas (cafs) are congenital. the anomaly accounts for 0.4% of congenital heart defects and approximately 50% of pediatric coronary vasculature anomalies. twenty percent of people with congenital cafs have other concomitant cardiac anomalies, most frequently aortic and pulmonary atresia and patent ductus arteriosus. it is worthy of note that caf with the tetral...

OBJECTIVE To compare the maternal and perinatal outcomes at Rajavithi Hospital from January 1st, 2000 to December 31st, 2004, (5 years), (3rd period) with those occurring in the previous two periods:1st and 2nd (1965-1970, (6 years) and 1985-1990, (6 years) respectively. MATERIAL AND METHOD Retrospective analysis of various medical records of 196 cases diagnosed pregnancy with heart disease. ...

Cardio-facio-cutaneous syndrome is a genetic disorder with a characteristic facies, abnormal skin and hair, mental retardation and congenital heart disease. It may be confused with Noonan's syndrome, which has a familial pattern and does not present hyperkeratotic skin lesions and abnormal hair, and there are few cases reported in the literature. We describe the first case of typical cardio-fac...