Objective To summarize the clinical features, diagnosing and treating passes of a case of primary ciliary dyskinesia (PCD) in newborns, and by literature review to increase awareness of PCD. Methods The clinical data of an infant patient, admitted in Children's Hospital Affiliated to Chongqing Medical University and diagnosed as PCD, was collected and retrospectively analyzed. CNKI, Wanfang, PubMed, Cochrane Library and Online Mendelian Inheritance in Man (OMIM) were searched, eligible literature was analyzed. Results A term female infant aged 1 month and 13 days was admitted to the hospital with 1-month history of cyanosis and 3-week of cough and wheeze, which aggravated 3 days prior to admission. She developed cyanosis on postnatal day 1, then cough and wheeze gradually. Her symptoms deteriorated due to pneumonia, non-invasive ventilation was performed, and continued CO₂ retention existed. Hypercapnia and oxygen dependence were found throughout the hospital stay even after clinical improvement. Whole exon sequencing test revealed DNAH1 compound heterozygous mutation in this patient, which leaded to the diagnosis of PCD. A total of 9 papers of neonatal respiratory distress caused by PCD were retrieved. All 12 patients in those papers were term infants, presented with varying degree of respiratory distress, which mainly manifested as tachypnea, retractions, elevated work of breath, cyanosis, hypoxemia, oxygen dependence. Of the 12 patients, 8 (66.7%) had situs inversus viscerum, 6 (50.0%) had atelectasis, 6 (50.0%) needed non-invasive or invasive ventilation. A total of 3 papers of PCD caused by DNAH1 mutation with 9 patients were retrieved. Of these patients, 7 were diagnosed in childhood and 2 in adulthood. The main clinical manifestations were Kartagener syndrome (55.5%), bronchiectasis (33.3%), atelectasis (22.2%), post-infectious bronchiolitis obliterans (33.3%), neonatal respiratory distress (11.1%), and female infertility (11.1%). Conclusions The clinical features of PCD in neonates are mainly unexplained respiratory distress, higher incidence of situs inversus viscerum and atelectasis, and the demand for respiratory support is high. Raising awareness of the clinical features of PCD in infants is helpful for early diagnosis and intervention.