Purpose: To evaluate the incidence rate, clinical characteristics, and perinatal outcomes of pneumothorax in late preterm and full-term newborns with respiratory distress and analyze the risk factors associated with pneumothorax.Methods: Infants born at ≥34 weeks’ gestation with respiratory distress and pneumothorax admitted between February 2014 and December 2020 were enrolled in this study. The pneumothorax group (n=36) was matched to the control group (n=144) in a 1:4 ratio, based on gestational age and birth weight. Risk factors were identified using logistic regression analysis with backward stepwise selection.Results: The incidence of pneumothorax during the study period was 1.36% (38/2,788). All patients were diagnosed with pneumothorax within 48 hours after birth, and increased oxygen demand was the most common symptom. The proportion of mortality and perinatal morbidity, such as intraventricular hemorrhage ≥grade 3, was significantly higher in the pneumothorax group than in the control group. The risk factors associated with pneumothorax were the need for positive pressure ventilation in the delivery room (odds ratio [OR], 3.40; 95% confidence interval [CI], 1.26 to 9.12; P=0.015) and a higher fraction of inspired oxygen to achieve an oxygen saturation of ≥90% on admission (OR, 1.06; 95% CI, 1.03 to 1.09; P<0.001).Conclusion: Pneumothorax should be suspected in late preterm and full-term newborns with respiratory distress within the first 3 days of life. Based on these risk factors, early diagnosis can reduce perinatal mortality and morbidity.

Woo H, et al. J Korean Med Sci. 2023 Oct;38:e367. https://doi.org/10.3346/jkms.2023.38.e367

Kim JS, et al. J Korean Med Sci. 2017 Aug;32(8):1295-1303. https://doi.org/10.3346/jkms.2017.32.8.1295

Chun J, et al. J Korean Med Sci. 2017 Aug;32(8):1288-1294. https://doi.org/10.3346/jkms.2017.32.8.1288

Baller-Gerold syndrome is a rare autosomal recessive disorder characterized by premature fusion of the cranial sutures and malformation of the upper limb extremities at birth. Although the pathogenesis of Baller-Gerold Syndrome is not fully understood, it is mainly caused by mutations in the RecQ like helicase 4 (RECQL4) gene located on chromosome 8q24.3, which encodes the RECQL4 protein involved in normal DNA replication and repair. This study reports the case of a female premature infant with craniosynostosis of bilateral coronal sutures, resulting in a dysmorphic face and hypoplastic thumbs on both hands at birth, which are consistent with the core characteristics of Baller-Gerold syndrome. Diagnostic whole exome sequencing of the patient revealed a homozygous deletion from exon 13 to 18 in the RECQL4 gene. To the best of my knowledge, this is the first reported case of Baller-Gerold syndrome with RECQL4 gene mutation confirmed by diagnostic whole exome sequencing in Korea.