{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T06:01:40Z","timestamp":1789970500860,"version":"4.0.1"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:00:00Z","timestamp":1789948800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    Short rib-thoracic dysplasia type 3 (SRTD3) is a rare skeletal ciliopathy caused by pathogenic variants in\n                    <jats:italic>DYNC2H1<\/jats:italic>\n                    , with a broad spectrum of clinical severity ranging from lethal neonatal disease to mild phenotypes presenting later in childhood. 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\n                    <jats:italic>DYNC2H1<\/jats:italic>\n                    variants comprising a paternally inherited synonymous splice-altering variant and a large exon 1\u201388 deletion identified by WES-based copy-number analysis and reported as maternally inherited. Together with the characteristic radiographic findings, these genetic findings supported the diagnosis of SRTD3. This case illustrates that respiratory manifestations may attract clinical attention before the skeletal phenotype is recognized in mild SRTD3, particularly when skeletal abnormalities are subtle. It adds to the emerging spectrum of mild postnatal\n                    <jats:italic>DYNC2H1<\/jats:italic>\n                    -related SRTD3 and highlights the importance of integrating clinical, radiologic, and genetic findings in children with recurrent respiratory symptoms and subtle skeletal abnormalities.\n                  <\/jats:p>","DOI":"10.3389\/fped.2026.1958469","type":"journal-article","created":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T05:36:23Z","timestamp":1789968983000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Short rib-thoracic dysplasia type 3 presenting with predominant respiratory manifestations"],"prefix":"10.3389","volume":"14","author":[{"given":"Pei","family":"Tao","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Chengdu Women and Children\u2019s Central Hospital, School of Medicine, University of Electronic Science and Technology of China","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhigang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chengdu Women and Children\u2019s Central Hospital, School of Medicine, University of Electronic Science and Technology of China","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinghong","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chengdu Women and Children\u2019s Central Hospital, School of Medicine, University of Electronic Science and Technology of China","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanmin","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chengdu Women and Children\u2019s Central Hospital, School of Medicine, University of Electronic Science and Technology of China","place":["Chengdu, Sichuan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,21]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1007\/s11604-020-00920-w","article-title":"Skeletal ciliopathies: a pattern recognition approach","volume":"38","author":"Handa","year":"2020","journal-title":"Jpn J Radiol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1136\/jmg-2024-110369","article-title":"Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes","volume":"62","author":"Pattani","year":"2025","journal-title":"J Med Genet"},{"key":"B3","doi-asserted-by":"publisher","first-page":"e2247","DOI":"10.1002\/mgg3.2247","article-title":"RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: case 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polyhydramnios","volume":"110","author":"Deng","year":"2018","journal-title":"Birth Defects Res"},{"key":"B13","doi-asserted-by":"publisher","first-page":"95","DOI":"10.5582\/irdr.2020.01031","article-title":"Identification of novel compound heterozygous mutations of the DYNC2H1 gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly","volume":"9","author":"Geng","year":"2020","journal-title":"Intract Rare Dis Res"},{"key":"B14","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/j.cca.2015.05.005","article-title":"Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III","volume":"447","author":"Mei","year":"2015","journal-title":"Clin Chim Acta"},{"key":"B15","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1111\/cga.12098","article-title":"Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome 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