Jarcho-Levin syndrome: a report of an autopsy case with cytogenetic analysis
Journal of Korean Medical Science
;
: 471-475, 1993.
Artigo
em Inglês
| 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).
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Costelas
/
Coluna Vertebral
/
Autopsia
/
Síndrome
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 4
/
Deleção Cromossômica
Limite:
Feminino
/
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
1993
Tipo de documento:
Artigo
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