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Thoracoschisis secondary to a mesenchymal hamartoma associated with diaphragmatic eventration

Abstract Thoracoschisis is an extremely rare congenital anomaly associated with limb body wall defect and diaphragmatic hernia. We describe a case of a female infant who was noted at birth to have tissue coming through a left sided thoracic defect next to an accessory nipple. The stomach bubble was displaced superiorly on radiographs. At surgery the tissue was attached to the left lateral lobe of the liver and was protruding through the chest wall via an intercostal defect below an eventrated diaphragm. The tissue was resected and the defect closed. Pathological examination was consistent with a mesenchymal hamartoma. The diaphragm may have formed abnormally in this case due to the presence of the mesenchymal hamartoma in this location.