Jarcho-levin Syndrome Associated with Imperforate Anus and Thoracoabdominal Wall Hernia.
- Author:
Woo Hyun PARK
1
;
Soon Ok CHOI
;
Hee Jung LEE
Author Information
1. Department of Surgery, School of Medicine, Keimyung University, Daegu, Korea. whp0903@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
Jarcho-Levin syndrome;
Spondylocostal dysostosis;
Thoracoabdominal wall hernia;
Imperforate anus;
Congenital heart disease
- MeSH:
Anus, Imperforate*;
Congenital Abnormalities;
Cyanosis;
Heart Defects, Congenital;
Hernia*;
Humans;
Infant, Newborn;
Ribs;
Skeleton;
Spine
- From:Journal of the Korean Surgical Society
2007;73(2):188-190
- CountryRepublic of Korea
- Language:Korean
-
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.
