Jarcho-Levin syndrome: a report of an autopsy case with cytogenetic analysis
Journal of Korean Medical Science
;
: 471-475, 1993.
Article
Dans Anglais
| WPRIM
| ID: wpr-48303
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).
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Côtes
/
Rachis
/
Autopsie
/
Syndrome
/
Malformations multiples
/
Chromosomes humains de la paire 4
/
Délétion de segment de chromosome
Limites du sujet:
Femelle
/
Humains
/
Nouveau-né
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
1993
Type:
Article
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