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KMID : 0371320070730020188
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Journal of the Korean Surgical Society
2007 Volume.73 No. 2 p.188 ~ p.190
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Jarcho-levin Syndrome Associated with Imperforate Anus and Thoracoabdominal Wall Hernia
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Park Woo-Hyun
Choi Soon-Ok
Lee Hee-Jung
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Abstract
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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. (J Korean Surg Soc 2007; 73:188-190)
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KEYWORD
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Jarcho-Levin syndrome, Spondylocostal dysostosis, Thoracoabdominal wall hernia, Imperforate anus, Congenital heart disease
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