Dyspnea and situs inversus in a boy aged 3 days / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 633-638, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879905
ABSTRACT
A boy was admitted on day 3 after birth due to shortness of breath for 2 days and cyanosis for 1 day. He had clinical manifestations of dyspnea in the early postnatal period and situs inversus, and was finally diagnosed with Kartagener syndrome. His condition was improved after oxygen therapy, anti-infective therapy, and aerosol therapy. The genetic testing showed that there was a large-fragment loss of heterozygosity, exon 48_50, and a hemizygous mutation, c.7915C > T(p.R2639X), in the
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Situs Inversus
/
China
/
Kartagener Syndrome
/
Exons
/
Dyspnea
Limits:
Humans
/
Male
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2021
Type:
Article
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