Xiaojiao Wu, Yanyan Cao, Jiancheng Jiao, Junchen Fang, Yudong Zhang, Li Ma
Children’s Hospital of Hebei Province and Hebei Clinical Medicine Research Center for Children’s Health and
Diseases.
China
BioMedical Central Pediatrics
BMC Pediatr 2026;
DOI: 10.1186/s12887-026-06839-x
Abstract
Background: Chromosome 17q23.1-q23.2 deletion syndrome is a rare genetic disorder characterized by various congenital defects, including microcephaly, heart and lung defects, limb abnormalities, and mild-tosevere developmental delay. Respiratory distress and severe pulmonary hypertension (PH) are possible initial symptoms.
Case presentation: We report the case of two full-term neonates with respiratory distress presenting shortly after birth. They both presented with severe PH in the early postnatal period, with oxygenation indices of more than 70. Their symptoms were temporarily relieved with comprehensive treatment but PH either persisted into, or reappeared in infancy. Case 1 had an anomalous origin of the right upper lobe bronchus on chest computed tomography (CT) imaging, while Case 2 had an atrial
septal defect and cor triatriatum sinister on echocardiography. Case 2 also exhibited bilateral inner ear malformations and bilateral irregularities in the morphology of the auditory ossicles on temporal bone CT imaging. Whole-exome sequencing revealed a 2.0-2.3 Mb de novo heterozygous deletion at 17q23.1-q23.2 encompassing T-box transcription factor 2 and 4 genes in both infants, which were confirmed by quantitative real-time PCR. Despite receiving intensive care, they succumbed to irreversible PH and respiratory and heart failure, with one passing away at 3 months and the other at 20 months of age.
Conclusions: This is the first report of two cases of chromosome 17q23.1- q23.2 deletion syndrome diagnosed after birth in China, associated with intractable PH, expanding the current clinical phenotype spectrum.
Category
Class III. Pulmonary Hypertension Associated with Developmental Diseases of the Lung
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes