A Case of Jarcho-Levin Syndrome with Fusion of Both Kidneys in a Newborn Infant.

Kim,  Jung Yun; Hwang,  Seung Jae; Lee,  Se Min; Oh,  Jae Won; Yum,  Myung Kul; Kim,  Chang Ryul

Case Report

Journal of the Korean Society of Neonatology 2008;15(1):84-88.
Published online May 1, 2008.

A Case of Jarcho-Levin Syndrome with Fusion of Both Kidneys in a Newborn Infant.

Jung Yun Kim, Seung Jae Hwang, Se Min Lee, Jae Won Oh, Myung Kul Yum, Chang Ryul Kim

Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea. crkim@hanyang.ac.kr

신장융합 기형을 동반한 Jarcho-Levin Syndrome 신생아 1례

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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.

Key Words: Jarcho-Levin syndrome; Fusion of kidney