Cantrell deformity

Cantrell Deformity Cantrell Deformity, also known as Pentalogy of Cantrell, is a rare congenital disorder characterized by a combination of defects involving the diaphragm, abdominal wall, pericardium, heart, and lower sternum. This condition was first described by Dr. James Cantrell in 1958.

Clinical Features

Cantrell Deformity is defined by the presence of five characteristic anomalies: 1. ]]Defect of the anterior diaphragm]]: This can lead to herniation of abdominal contents into the thoracic cavity. 2. ]]Midline supraumbilical abdominal wall defect]]: Often presents as an omphalocele, where abdominal organs protrude through the abdominal wall. 3. ]]Defect of the diaphragmatic pericardium]]: This can result in communication between the pericardial and pleural cavities. 4. ]]Intracardiac anomalies]]: These may include ventricular septal defects, atrial septal defects, or more complex congenital heart defects. 5. ]]Lower sternal defect]]: This can range from a small cleft to complete absence of the lower sternum.

Pathophysiology

The exact cause of Cantrell Deformity is not well understood, but it is believed to result from a developmental failure during embryogenesis, specifically affecting the mesodermal structures. This failure occurs around the 14th to 18th day of gestation, leading to the spectrum of defects observed in this condition.

Diagnosis

Diagnosis of Cantrell Deformity is typically made through prenatal imaging, such as ultrasound or fetal echocardiography, which can reveal the characteristic defects. Postnatal diagnosis involves a combination of physical examination and imaging studies, including echocardiography, chest X-ray, and MRI.

Treatment

Treatment of Cantrell Deformity is complex and often requires a multidisciplinary approach. Surgical intervention is usually necessary to correct the defects, and the timing and extent of surgery depend on the severity of the condition and the specific anomalies present. Cardiac defects may require separate surgical procedures.

Prognosis

The prognosis for individuals with Cantrell Deformity varies widely and depends on the severity of the defects and the presence of associated anomalies. Early diagnosis and intervention can improve outcomes, but severe cases may have a poor prognosis due to complications such as cardiac failure or respiratory distress.

Epidemiology

Cantrell Deformity is extremely rare, with an estimated incidence of 1 in 65,000 to 1 in 200,000 live births. Due to its rarity, there is limited data on the condition, and most information comes from case reports and small case series.

See Also

• Congenital diaphragmatic hernia
• Omphalocele
• Congenital heart defect
• Cantrell, J. R., Haller, J. A., & Ravitch, M. M. (1958). A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surgery, Gynecology & Obstetrics, 107(5), 602-614.
• van Hoorn, J. H., Moonen, R. M., Huysentruyt, C. J., van Heurn, L. W., & Offermans, J. P. (2008). Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach. European Journal of Pediatrics, 167(1), 29-35.

NIH genetic and rare disease info

• NIH info on Cantrell deformity

Cantrell deformity is a rare disease.