A Case of Jarcho-Levin Syndrome with Fusion of Both Kidneys in a Newborn Infant.
- Author:
Jung Yun KIM
1
;
Seung Jae HWANG
;
Se Min LEE
;
Jae Won OH
;
Myung Kul YUM
;
Chang Ryul KIM
Author Information
1. Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea. crkim@hanyang.ac.kr
- Publication Type:Case Report
- Keywords:
Jarcho-Levin syndrome;
Fusion of kidney
- MeSH:
Abnormalities, Multiple;
Cyanosis;
Heart Defects, Congenital;
Hernia, Diaphragmatic;
Humans;
Infant;
Infant, Newborn;
Kidney;
Neck;
Respiratory Insufficiency;
Ribs;
Thorax
- From:Journal of the Korean Society of Neonatology
2008;15(1):84-88
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The Jarcho-Levin syndrome is a rare genetic disorder characterized by a short neck, short trunk, and a constricted thorax, and is due to multiple vertebral and rib defects. The small size of the thorax frequently leads to respiratory insufficiency and death in neonates or infants. This syndrome also combines with various kinds of anomalies, especially renal anomalies. We report an infant with Jarcho-Levin syndrome combined with fusion of both kidneys who was referred from a local obstetric clinic for cyanosis and respiratory difficulty.
