Pentalogy of Cantrell
Encyclopedia
Pentalogy of Cantrell is a rare syndrome that causes defects involving the diaphragm
, abdominal wall, pericardium
, heart
and lower sternum.
It was characterized in 1958.
An locus at Xq25-26 has been described.
Thoracic diaphragm
In the anatomy of mammals, the thoracic diaphragm, or simply the diaphragm , is a sheet of internal skeletal muscle that extends across the bottom of the rib cage. The diaphragm separates the thoracic cavity from the abdominal cavity and performs an important function in respiration...
, abdominal wall, pericardium
Pericardium
The pericardium is a double-walled sac that contains the heart and the roots of the great vessels.-Layers:...
, heart
Heart
The heart is a myogenic muscular organ found in all animals with a circulatory system , that is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions...
and lower sternum.
It was characterized in 1958.
An locus at Xq25-26 has been described.
Presentation
The syndrome has five characteristic findings:- OmphaloceleOmphaloceleAn omphalocele is a type of abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall.-Presentation:The sac, which is formed from an outpouching of...
- Anterior diaphragmatic herniaDiaphragmatic herniaDiaphragmatic hernia is a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity. Treatment is usually surgical.The following types of diaphragmatic hernia exist:* Congenital diaphragmatic hernia** Morgagni's hernia...
- Sternal cleft
- Ectopia cordisEctopia cordisEctopia cordis is a birth defect in which the heart is abnormally located. In the most common form, the heart protrudes outside the chest through a split sternum...
- Intracardiac defect: either a ventricular septal defectVentricular septal defectA ventricular septal defect is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart.The ventricular septum consists of an inferior muscular and superior membranous portion and is extensively innervated with conducting cardiomyocytes.The membranous...
or a diverticulumDiverticulumA diverticulum is medical or biological term for an outpouching of a hollow structure in the body. Depending upon which layers of the structure are involved, they are described as being either true or false....
of the left ventricleLeft ventricleThe left ventricle is one of four chambers in the human heart. It receives oxygenated blood from the left atrium via the mitral valve, and pumps it into the aorta via the aortic valve.-Shape:...