agenesis of the diaphragm
Agenesis of the diaphragm is a congenital diaphragmatic developmental anomaly where all or part of diaphragm fails to form. It can sometimes be thought of as an extreme form congenital diaphragmatic herniation .
The agenesis can either be unilateral or bilateral. Herniation of abdominal contents into thorax and pulmonary hypoplasia occurs which leads to a fatal cardiopulmonary failure in the early few hours of life. Less than 10 cases of adult presentation have been reported.
Various modalities have a role in the diagnosis of diaphragmatic agenesis. Patients who can be diagnosed based on x-ray, most often present with obstructive symptoms due to intrathoracic abdominal contents. The diagnosis could be aided with a contrast study to confirm the intrathoracic location of bowel loops. Multiplanar CT images or MRI can provide a definitive diagnosis.
- development of pulmonary hypoplasia in utero