Congenital rubella syndrome

Tetralogy of Fallot is the most common congenital defect. I find it to be a very interesting topic for various reasons. One of them is because the first open heart surgery in America over half a century ago was to fix Tetralogy of Fallot. One of the other reasons is that this is a very complex defect and it is a defect that we cannot prevent from occurring. From the very first surgery to fix Tetralogy of Fallot it was a successful procedure. Over time technology and new research has benefited…

Single Ventricle Defects WHAT ARE SINGLE VENTRICLE DEFECTS? Single ventricle defects are heart problems that you were born with (congenital heart defects). Normally the heart has two pumping chambers. These are the right and left ventricles. The right ventricle pumps blood to the lungs to get oxygen. After blood returns from the lungs, the left ventricle pumps it out to the body. Single ventricle defects come in many forms. They can involve one or more valves in your heart and a ventricle…

Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

In 1965 Harry Angelman reported clinical findings in three children with similar, unusual, attributes. These children had what was known as “happy puppet” syndrome, but was later changed to Angelman syndrome, due to its pejorative name. Angelman syndrome is a neurodevelopmental disorder distinguished by: severe learning difficulties, ataxia, jerky movements, epilepsy, speech impairments, hypopigmentation in the hair and the skin with blue eyes, subtle dysmorphic facial features, and happy and…

The speaker Adrienne Bashista gave a very insightful speech about what Fetal Alcohol Syndrome is and how it is caused. Before our speaker told us about her son, I had very little knowledge about what FASD was. I now realize how severe FASD is and how even the slightest consumption of alcohol can affect a fetus during pregnancy. I became aware that FASD is a rare syndrome that only 2 to 5 percent of the population have. This statistic surprised me due to a large amount of woman who may drink when…

Williams Syndrome (WS) is a rare genetic disorder that affects approximately 20,000 people in the United States. This condition is present at birth. The causes of Williams syndrome is due to the deletion of 26 plus genes on one of an individual’s chromosome #7. Individuals born with Williams syndrome share a number of common neurological, medical, and behavioral characteristics as well as common facial…

MEDICAL RECORD NUMBER [Number] [Name] is an almost 25-year-old girl who has a diagnosis of congenital adrenal hyperplasia, which is definitely a very severe form. I first met her in 1995, when I was working at [Place] and doing an outreach clinic in [Place]. She was diagnosed with a disorder in the newborn period and did undergo genital surgery, with removal of her clitoris and establishment of a normal external female genitalia. She has been highly noncompliant in taking her medications and…

About 40,000 babies each year are born with a congenital heart defect (“Congenital Heart Defect”). It also states in the article that the most common type of heart defect is the ventricular septal defect. A ventricular septal defect is a flaw in the septum; the septum is a “wall” in the lower chambers of the heart that separates the left and right side (“Ventricular Septal Defect”; “Atrioventricular Canal Defect in Children”). Parents are able to be more aware if their child acquires the defect…

Introduction Congenital Heart Disease is apart of the respiratory system. The respiratory system is very important and fragile. It constitutes many functions with in the body. Congenital heart disease (CHD) is a series of cardiac defects. This disease is mostly prevalent at birth. However, it can develop at a later stage in life. It has become very significant in adulthood. There are many forms of CHD. For example, atrial septal defects and ventricular septal defects. The heart is a very complex…