Jarcho-Levin syndrome: a report of an autopsy case with cytogenetic analysis.
10.3346/jkms.1993.8.6.471
- Author:
Yangsoon PARK
1
;
Gyungyub GONG
;
Gheeyoung CHOE
;
Eunsil YU
;
Ki Soo KIM
;
Inchul LEE
Author Information
1. Department of Pathology, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea.
- Publication Type:Case Reports
- Keywords:
Jarcho-Levin syndrome;
Hemivertebrae;
Chromosomal analysis
- MeSH:
Abnormalities, Multiple/genetics/*pathology;
Autopsy;
Chromosome Deletion;
Chromosomes, Human, Pair 4;
Female;
Humans;
Infant, Newborn;
Ribs/*abnormalities;
Spine/*abnormalities;
Syndrome
- From:Journal of Korean Medical Science
1993;8(6):471-475
- CountryRepublic of Korea
- Language:English
-
Abstract:
Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated malformations, and inheritance patterns. We have experienced an autopsy case of a premature female fetus with multiple congenital anomalies. She was 30 weeks of gestational age, born as the second baby of twins and expired shortly after birth. A post-mortem examination revealed multiple abnormalities including cervicothoracic hemivertebrae, a diminished number of right-sided ribs, and pulmonary hypoplasia with left diaphragmatic hernia. In addition, there were anomalous rotation of the foregut, unfused pancreas and anomalous drainage of the superior vena cava. Chromosomal analysis showed 46, XX, del(4)(q ter).
