{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T21:42:10Z","timestamp":1791582130596,"version":"4.3.4"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2015,2,1]],"date-time":"2015-02-01T00:00:00Z","timestamp":1422748800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Rationale<\/jats:title>\n                    <jats:p>The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To delineate clinical features of childhood PCD and their associations with ultrastructural defects and genotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 118 participants younger than 19 years old with PCD were evaluated prospectively at six centers in North America using standardized procedures for diagnostic testing, spirometry, chest computed tomography, respiratory cultures, and clinical phenotyping.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Measurements and Main Results<\/jats:title>\n                    <jats:p>Clinical features included neonatal respiratory distress (82%), chronic cough (99%), and chronic nasal congestion (97%). There were no differences in clinical features or respiratory pathogens in subjects with outer dynein arm (ODA) defects (ODA alone; n\u2009=\u200954) and ODA plus inner dynein arm (IDA) defects (ODA\u2009+\u2009IDA; n\u2009=\u200918) versus subjects with IDA and central apparatus defects with microtubular disorganization (IDA\/CA\/MTD; n\u2009=\u200940). Median FEV1 was worse in the IDA\/CA\/MTD group (72% predicted) versus the combined ODA groups (92% predicted; P\u2009=\u20090.003). Median body mass index was lower in the IDA\/CA\/MTD group (46th percentile) versus the ODA groups (70th percentile; P\u2009=\u20090.003). For all 118 subjects, median number of lobes with bronchiectasis was three and alveolar consolidation was two. However, the 5- to 11-year-old IDA\/CA\/MTD group had more lobes of bronchiectasis (median, 5; P\u2009=\u20090.0008) and consolidation (median, 3; P\u2009=\u20090.0001) compared with the ODA groups (median, 3 and 2, respectively). Similar findings were observed when limited to participants with biallelic mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Lung disease was heterogeneous across all ultrastructural and genotype groups, but worse in those with IDA\/CA\/MTD ultrastructural defects, most of whom had biallelic mutations in CCDC39 or CCDC40.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1164\/rccm.201409-1672oc","type":"journal-article","created":{"date-parts":[[2014,12,10]],"date-time":"2014-12-10T17:55:49Z","timestamp":1418234149000},"page":"316-324","source":"Crossref","is-referenced-by-count":263,"title":["Clinical Features of Childhood Primary Ciliary Dyskinesia By Genotype and Ultrastructural Phenotype"],"prefix":"10.1093","volume":"191","author":[{"given":"Stephanie D.","family":"Davis","sequence":"first","affiliation":[{"name":"Department of Pediatrics and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Ferkol","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital and Regional Medical Center, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye-Seung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida, Tampa, Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon D.","family":"Dell","sequence":"additional","affiliation":[{"name":"The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott D.","family":"Sagel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Milla","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Stanford University, Palo Alto, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[{"name":"Department of Pathology\/Lab Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica E.","family":"Pittman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam J.","family":"Shapiro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Montreal Children\u2019s Hospital, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johnny L.","family":"Carson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics"},{"name":"Center for Environmental Medicine, Asthma and Lung Biology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey P.","family":"Krischer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida, Tampa, Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan J.","family":"Hazucha","sequence":"additional","affiliation":[{"name":"Center for Environmental Medicine, Asthma and Lung Biology, and"},{"name":"Department of Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew L.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Department of Radiology, Indiana University School of Medicine, Indianapolis, Indiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Knowles","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret W.","family":"Leigh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2015,2,1]]},"reference":[{"key":"2026032100240821100_bib1","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1164\/rccm.201301-0059CI","article-title":"Primary ciliary dyskinesia. 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