Table 1_Case Report: Short rib-thoracic dysplasia type 3 presenting with predominant respiratory manifestations.docx

We report a 20-month-old girl who presented with recurrent infection-associated wheezing and a rhinovirus-associated acute lower respiratory tract infection complicated by hypoxemia and respiratory distress.

Chest computed tomography revealed bilateral patchy ground-glass opacities with focal consolidation and a mildly narrowed thoracic cage with shortened ribs, while skeletal radiographs demonstrated subtle shortening of the long bones and mild acetabular dysplasia. Prenatal ultrasonography did not reveal characteristic fetal skeletal abnormalities, and no prenatal genetic testing was performed. Postnatally, whole-exome sequencing was performed because of developmental delay and recurrent respiratory infections, identifying compound heterozygous DYNC2H1 variants comprising a paternally inherited synonymous splice-altering variant and a large exon 1–88 deletion identified by WES-based copy-number analysis and reported as maternally inherited.