Dyspnea and situs inversus in a boy aged 3 days.
- Author:
Hui-Jia LIN
1
;
Fang LUO
;
Xiao-Lu MA
1
Author Information
1. Neonatal Intensive Care Unit, Children's Hospital, Zhejiang University School of Medicine/National Clinical Research Center for Child Health, Hangzhou 310052, China.
- Publication Type:Journal Article
- MeSH:
China;
Dyspnea;
Exons;
Humans;
Infant, Newborn;
Kartagener Syndrome/therapy*;
Male;
Situs Inversus/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(6):633-638
- CountryChina
- Language:Chinese
-
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
