항문기형과 흉복벽탈장을 동반한 Jarcho-Levin 증후군

Abstract

Jarcho-Levin syndrome is a rare condition, characterized by multiple morphological abnormalities of the vertebrae and ribs due to malsegmentation of the axial skeleton. The authors report a case of Jarcho-Levin syndrome, with a review of the related literature. A full-term neonate presented with a reducible bulging mass in the left lateral thoracoabdominal wall, respiratory difficulty with cyanosis, and an imperforate anus. A radiographic examination revealed severe cervicothoracic vertebral anomalies, associated with secondary deformities of the ribs. An echocardiogram demonstrated a complete atrioventricular canal defect with TOF. To the best of our knowledge, this case of Jarcho-Levin syndrome, associated with a thoracoabdominal wall hernia and an imperforate anus, appears to be the first reported in the Korean and English language literatures.