Pentalogy of Cantrell
Hernia, Umbilical
Sternum
Ectopia Cordis
Abnormalities, Multiple
Abdominal Wall
Tricuspid Atresia
A variant of pentalogy of Cantrell in a live birth. (1/4)
(+info)Pentalogy of Cantrell: report of a case with consanguineous parents. (2/4)
(+info)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)
(+info)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.
Pentalogy of Cantrell
Tetralogy of Fallot
Rivka Carmi
Sternal cleft
Rose of Viterbo
Congenital heart defect
Omphalocele
Ectopia cordis
List of fetal abnormalities
List of syndromes
List of diseases (P)
James Rollins
Pentalogy of Cantrell - Wikipedia
Pentalogy of Cantrell - Symptoms, Causes, Treatment | NORD
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WSPCHS - Poster PresentationsEctopia cordis5
- The most severe expression of pentalogy of Cantrell presents at birth with ectopia cordis and omphalocele. (rarediseases.org)
- Ectopia cordis is frequently, but not always associated with pentalogy of Cantrell. (rarediseases.org)
- The affected puppies had anomalies compatible with the Pentalogy of Cantrell, including thoracoabdominal schisis, ectopia cordis, sternal cleft, pericardial agenesis, and diaphragmatic defects. (bvsalud.org)
- This is the first report of the complete Pentalogy of Cantrell with ectopia cordis in the dog and the only report on papillons. (bvsalud.org)
- Other syndromes associated with an exomphalos are Beckwith - Weidemann syndrome (macrosomia and macroglossia with renal cysts), OEIS (omphalocoele, bladder exstrophy, imperforate anus and spinal defects) and pentalogy of Cantrell (exomphalos, congenital diaphragmatic hernia, ectopia cordis, sternal cleft and intracardiac defect, usually a ventricular septal defect). (clinicalgate.com)
Abdominal wall d1
- There are five characteristic findings in pentalogy of Cantrell: an abdominal wall defect, lower sternal defect, congenital heart malformations, absence of the diaphragmatic pericardium, and an anterior diaphragmatic defect. (wikipedia.org)
Defects7
- Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare congenital syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum. (wikipedia.org)
- Abdominal wall defects in pentalogy of Cantrell occur above the umbilicus (supraumbilical) and in the midline, and have a wide range of presentations. (wikipedia.org)
- Pentalogy of Cantrell is characterized by a combination of birth defects. (rarediseases.org)
- Most infants do not develop all of the potential defects, which may be referred to as incomplete pentalogy of Cantrell. (rarediseases.org)
- When all five defects are present, this is referred to as complete pentalogy of Cantrell. (rarediseases.org)
- Other forms of abdominal wall defects that can occur in pentalogy of Cantrell include wide separation (diastasis) of certain abdominal muscles or, less frequently, the intestines may protrude through a defect to either side of the umbilical cord (gastroschisis). (rarediseases.org)
- Defects of the thin membranous, fluid-filled sac that lines the heart (pericardium) may occur in pentalogy of Cantrell, specifically in the lower portion where it meets the diaphragm. (rarediseases.org)
Anomalies1
- The inferior sternal clefts including Cantrell's pentalogy and the total ventral clefts were excluded because in these cases severe associated anomalies require another approach. (ucy.ac.cy)
Ventricular1
- Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis. (ucdenver.edu)
Omphalocele1
- Diastasis recti, hernias, and omphalocele have all been described in conjunction with the pentalogy. (wikipedia.org)
Syndrome2
- Pentalogy of Cantrell is a rare congenital syndrome described in human neonates. (bvsalud.org)
- To better understand this syndrome and its presentation in dogs, we describe two rare cases of Pentalogy of Cantrell in a litter of papillon dogs. (bvsalud.org)
Occurs2
- Pentalogy of Cantrell occurs in 1/65,000 to 1/200,000 live births. (wikipedia.org)
- Pentalogy of Cantrell occurs with varying degrees of severity, potentially causing severe, life-threatening complications. (rarediseases.org)
Findings1
- Stephan and Hannah knew their baby boy would have many challenges when he was born based on anatomical problems diagnosed in utero--all together these findings are called Pentalogy of Cantrell. (ourbrokencup.com)
Rare3
- Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). (rarediseases.org)
- Virsaviya Borun was born with a rare medical condition called pentalogy of Cantrell. (insideedition.com)
- WIDJAJA, S. Baby girl with pentalogy of Cantrell: a case report on an extremely rare condition. (paediatricaindonesiana.org)
Cases2
- Most cases of pentalogy of Cantrell are idiopathic (no known cause). (wikipedia.org)
- Eight cases with pentalogy of Cantrell were terminated. (bildirim.org)
Heart2
- Many congenital heart malformations have been described in conjunction with pentalogy of Cantrell. (wikipedia.org)
- Surgical management of pentalogy of Cantrell with congenital heart disease. (jspccs.jp)
Birth1
- 90 percent of babies with Pentalogy of Cantrell die at birth. (iheart.com)
Congenital5
- Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare congenital syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum. (wikipedia.org)
- There are five characteristic findings in pentalogy of Cantrell: an abdominal wall defect, lower sternal defect, congenital heart malformations, absence of the diaphragmatic pericardium, and an anterior diaphragmatic defect. (wikipedia.org)
- Many congenital heart malformations have been described in conjunction with pentalogy of Cantrell. (wikipedia.org)
- Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect lower sternal defect diaphragmatic pericardial defect anterior diaphragmatic defect and various intracardiac malformations. (globalgenes.org)
- Surgical management of pentalogy of Cantrell with congenital heart disease. (jspccs.jp)
Cantrell's8
- 1. Prenatal sonographic diagnosis of Cantrell's pentalogy with cystic hygroma in the first trimester. (nih.gov)
- 2. Twin pregnancy in which both fetuses have Cantrell's pentalogy: A case report and literature review. (nih.gov)
- 4. First-trimester sonographic diagnosis of Cantrell's pentalogy with exencephaly. (nih.gov)
- 6. Prenatal diagnosis of Cantrell's pentalogy: a case report. (nih.gov)
- 7. Prenatal sonographic diagnosis of a rare Cantrell's pentalogy variant with associated open neural tube defect - a case report. (nih.gov)
- 11. Cantrell's Pentalogy in Twins: Prenatal Diagnosis. (nih.gov)
- 17. Anesthetic management of a patient with Cantrell's pentalogy diagnosed prenatally. (nih.gov)
- 20. Prenatal diagnosis of Cantrell's pentalogy with conventional and three-dimensional sonography. (nih.gov)
Abdominal1
- Las cinco anomalías son: defectos en la línea media de la pared abdominal supraumbilical (p.ej. (bvsalud.org)
Variants1
- Cite this: Pentalogy of Cantrell or One of its Variants - Medscape - Oct 01, 2005. (medscape.com)
Lung1
- Craniorachischisis with a variant of pentalogy of Cantrell, with lung extrophy. (nih.gov)
Occur1
- Pentalogy of Cantrell (POC) is a developmental disorder estimated to occur in 1-5.5 per 1 million live births with a 61% survival rate. (nih.gov)
Diagnosis3
- Coming full circle, Dr. Adelstein's laboratory in collaboration with the University of Washington is carrying out whole exomic sequencing on probands with the diagnosis of Pentalogy of Cantrell and their parents. (nih.gov)
- 3. Prenatal diagnosis of Pentalogy of Cantrell in the first trimester: is 3-dimensional sonography needed? (nih.gov)
- 9. [Pentalogy of Cantrell: first trimester prenatal diagnosis and association with multicistic dysplastic kidney]. (nih.gov)
Patient1
- The present patient confirms that the pentalogy of Cantrell can be caused in some patients by a PORCN mutation. (nih.gov)
Patients1
- NHLBI seeks patients with pentalogy of Cantrell and their family members to join a study. (nih.gov)
Study1
- A 2010 study concluded that the 13th-century Christian saint Rose of Viterbo died of complications of Pentalogy of Cantrell. (wikipedia.org)
