Dyspnea and situs inversus in a boy aged 3 days / 中国当代儿科杂志
Hui-Jia LIN; Fang LUO; Xiao-Lu MA.
Chinese Journal of Contemporary Pediatrics
; (12): 633-638, 2021.
Artículo
en Zh
| WPRIM | ID: wpr-879905
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
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