Case Report

DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature

Table 2

Clinical presentation of PCD [10].

AntenatalSitus inversus totalis or heterotaxy on antenatal ultrasound scanning, mild fetal cerebral ventriculomegaly

NeonatalNeonatal respiratory distress, continuous rhinorrhoea, heterotaxy, and hydrocephalus

ChildhoodChronic productive or wet-sounding cough, recurrent atelectasis, pneumonia, atypical asthma that is nonresponsive to treatment, daily rhinitis, nasal polyps, chronic sinusitis in older children, otitis media, and hearing loss

Adolescence and adult lifeBronchiectasis, chronic mucopurulent sputum production is common, digital clubbing, pulmonary function tests usually show a progressive obstructive or mixed pattern, nasal polyposis and halitosis infertility in males (50%) due to immotility of spermatozoa, ectopic pregnancy, and subfertility in females