J Korean Med Sci.  1993 Dec;8(6):471-475. 10.3346/jkms.1993.8.6.471.

Jarcho-Levin syndrome: a report of an autopsy case with cytogenetic analysis

• Park Y
• Gong G
• Choe G
• Yu E
• Kim KS
• Lee I

• KMID: 1422020
• DOI: http://doi.org/10.3346/jkms.1993.8.6.471

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).

Keyword

Jarcho-Levin syndrome; Hemivertebrae; Chromosomal analysis

MeSH Terms

Abnormalities, Multiple/genetics/*pathology
Autopsy
Chromosome Deletion
Chromosomes, Human, Pair 4
Female
Humans
Infant, Newborn
Ribs/*abnormalities
Spine/*abnormalities
Syndrome