Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome.
A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abdominal distention.
A long, narrow, and flat bone commonly known as BREASTBONE occurring in the midsection of the anterior thoracic segment or chest region, which stabilizes the rib cage and serves as the point of origin for several muscles that move the arms, head, and neck.
A rare developmental defect in which the heart is abnormally located partially or totally outside the THORAX. It is the result of defective fusion of the anterior chest wall. Depending on the location of the heart, ectopia cordis can be thoracic, thoracoabdominal, abdominal, and cervical.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
The outer margins of the ABDOMEN, extending from the osteocartilaginous thoracic cage to the PELVIS. Though its major part is muscular, the abdominal wall consists of at least seven layers: the SKIN, subcutaneous fat, deep FASCIA; ABDOMINAL MUSCLES, transversalis fascia, extraperitoneal fat, and the parietal PERITONEUM.
Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional.

A variant of pentalogy of Cantrell in a live birth. (1/4)

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Pentalogy of Cantrell: report of a case with consanguineous parents. (2/4)

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Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report. (3/4)

The pentalogy of Cantrell, a rare syndrome, consists of the defects in the anterior diaphragm, diaphragmatic pericardium, lower sternum and supraumbilical abdominal wall, along with congenital cardiac abnormalities. Till date, only few patients with full spectrum of this syndrome have been reported with only 2 cases showing associated exencephaly and spinal dysraphism. We report extremely rare association of complete pentalogy of Cantrell syndrome with exencephaly and spinal dysraphism on antenatal sonogram and autopsy in a 18 weeks fetus of a 19 year-old primi gravida female.  (+info)

Ectopia cordis. (4/4)

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Pentalogy of Cantrell is a rare congenital anomaly that affects the development of the anterior chest wall and abdominal wall, as well as the heart and diaphragm. It is characterized by the presence of five distinct malformations:

1. Midline supraumbilical abdominal wall defect (omphalocele or gastroschisis)
2. Lower sternal cleft
3. Diaphragmatic hernia
4. Ectopia cordis (congenital heart defect with the heart partially or completely outside of the chest)
5. Absence of pericardium (the sac surrounding the heart)

The condition is thought to arise from a failure of lateral fusions during embryonic development, leading to the characteristic pattern of malformations. Pentalogy of Cantrell is often associated with other congenital anomalies and syndromes, and it carries a high mortality rate due to the severity of the cardiac defects.

An umbilical hernia is a type of hernia that occurs at the umbilicus, or belly button. It results from a protrusion of abdominal contents through a weakened area in the abdominal wall surrounding the navel. This condition is common in newborns and infants, especially premature babies, due to incomplete closure of the abdominal muscles during development.

In most cases, umbilical hernias in children close on their own by age 3-4 or by the time they reach school age. However, if the hernia is still present after this age, surgical intervention may be required to prevent potential complications such as incarceration (where the herniated tissue becomes trapped and cannot be pushed back in) or strangulation (where the blood supply to the herniated tissue is cut off, leading to tissue death).

Adults can also develop umbilical hernias, often as a result of increased pressure in the abdomen due to obesity, pregnancy, heavy lifting, or persistent coughing. Umbilical hernias in adults are generally more likely to require surgical repair due to the higher risk of complications.

The sternum, also known as the breastbone, is a long, flat bone located in the central part of the chest. It serves as the attachment point for several muscles and tendons, including those involved in breathing. The sternum has three main parts: the manubrium at the top, the body in the middle, and the xiphoid process at the bottom. The upper seven pairs of ribs connect to the sternum via costal cartilages.

Ectopia Cordis is a rare congenital condition in which the heart or a portion of it is located outside the chest wall during fetal development. It is caused by the failure of the anterior chest wall and ventricular septum to close properly, resulting in the heart being exposed on the exterior of the body or covered only by a thin layer of skin. This condition is often associated with other congenital defects, such as cardiac abnormalities, chromosomal anomalies, and genetic syndromes. The severity of ectopia cordis can vary widely, from mild cases where the heart is partially outside the chest to severe cases where it is completely exposed. Treatment typically involves surgical correction, which can be complex due to the presence of other associated defects.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

The abdominal wall refers to the group of muscles, fascia (sheaths of connective tissue), and skin that make up the front and sides of the abdomen, extending from the thorax (chest) to the pelvis. It provides protection to the abdominal organs, supports the trunk, and allows for movement of the torso.

The main muscles of the anterior abdominal wall include:

1. Rectus sheaths (Rectus Abdominis): paired vertical muscles running from the pubic symphysis to the xiphoid process and costal cartilages of ribs 5-7.
2. External obliques: thin, irregular muscles that lie over the lower part of the abdomen and run diagonally downward and forward from the lower ribs to the iliac crest (pelvic bone) and pubic tubercle.
3. Internal obliques: thicker muscles that lie under the external obliques, running diagonally upward and forward from the iliac crest to the lower ribs.
4. Transverse abdominis: deepest of the abdominal muscles, lying horizontally across the abdomen, attaching from the lower ribs to the pelvis.

These muscles are interconnected by various layers of fascia and aponeuroses (flat, broad tendons), forming a complex structure that allows for both stability and mobility. The linea alba, a fibrous band, runs down the midline of the anterior abdominal wall, connecting the rectus sheaths.

Damage to the abdominal wall can occur due to trauma, surgery, or various medical conditions, which may require surgical intervention for repair.

Tricuspid atresia is a congenital heart defect where the tricuspid valve, which regulates blood flow between the right atrium and right ventricle, fails to develop properly. As a result, there is no direct pathway for blood to move from the right atrium to the right ventricle and then to the lungs for oxygenation.

In this condition, blood from the body returning to the heart enters the right atrium but cannot flow through the tricuspid valve into the right ventricle. Instead, it flows through an opening in the interatrial septum (atrial septal defect) into the left atrium and then into the left ventricle. The left ventricle pumps this blood to the body and a portion of it goes to the lungs via a patent ductus arteriosus or other collateral vessels.

Tricuspid atresia is often associated with other heart defects, such as transposition of the great arteries, pulmonary stenosis, or total anomalous pulmonary venous return. Symptoms can vary depending on the severity and associated defects but may include cyanosis (bluish discoloration of the skin), shortness of breath, fatigue, and poor growth. Treatment typically involves surgical interventions to create a path for blood to flow to the lungs and establish proper oxygenation.

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