Pentalogy of Cantrell
Pentalogy of Cantrell (pronounced: pen-tal-uh-jee of kan-trell) is a rare congenital disorder characterized by a combination of five distinct anomalies. These include defects in the diaphragm, abdominal wall, pericardium, heart, and the lower part of the sternum. The condition was first described by American pathologist James Cantrell in 1958.
Etymology
The term 'Pentalogy' is derived from the Greek word 'pente', meaning 'five', and 'logia', meaning 'study of'. 'Cantrell' is the surname of the pathologist who first described the condition.
Symptoms
The symptoms of Pentalogy of Cantrell can vary greatly among affected individuals. They may include a combination of the following:
- Ectopia cordis: A condition where the heart is partially or completely located outside the chest cavity.
- Omphalocele: A birth defect in which an infant's intestine or other abdominal organs are outside of the body because of a hole in the belly button area.
- Diaphragmatic hernia: A birth defect where there is an opening in the diaphragm, allowing abdominal organs to move into the chest cavity.
- Congenital heart defects: These can include a variety of conditions such as ventricular septal defect, atrial septal defect, and tetralogy of Fallot.
- Sternal defects: These can include a cleft sternum or absence of the sternum.
Diagnosis
Diagnosis of Pentalogy of Cantrell can be made prenatally through ultrasound examination. Postnatal diagnosis is based on the presence of the five characteristic defects. Genetic testing may also be performed to identify any underlying genetic mutations.
Treatment
Treatment of Pentalogy of Cantrell is largely dependent on the severity of the defects and the overall health of the individual. It often involves a multidisciplinary team of specialists including cardiologists, surgeons, and geneticists. Surgical intervention may be necessary to correct the defects.
Prognosis
The prognosis for individuals with Pentalogy of Cantrell varies widely and is dependent on the severity of the defects. With early diagnosis and appropriate treatment, many individuals can lead a normal life.
See also
External links
- Medical encyclopedia article on Pentalogy of Cantrell
- Wikipedia's article - Pentalogy of Cantrell
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