Diagnosis and repair of familial diaphragmatic defects in golden lion tamarins.

Diaphragmatic defects were identified in 11 of 130 golden lion tamarins. Seven of the cases were found at necropsy (52 tamarins) and 4 were diagnosed by radiography (78 tamarins). When screening radiography revealed a thoracic mass, a barium series was indicated and either demonstrated loops of bowel within the thorax or suggested liver displacement by the cranial location of the intestine. In 1 case, pneumoperitoneum aided in the diagnosis, by showing liver displacement cranially in an eventration of the diaphragm. The 4 defects diagnosed clinically were successfully corrected surgically. The defects mainly involved the ventromedial to lateral aspect of the costal and sternal muscular portions of the diaphragms. Either a thin pleuroperitoneal sac remained or wide gaps were associated with herniation of abdominal contents into the thorax. Of the 11 affected tamarins, 10 were closely related and the other had no direct consanguinity. An autosomal recessive mode of inheritance was suggested, but other genetic factors may have been involved.