{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T15:31:19Z","timestamp":1757777479054,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,10]],"date-time":"2020-11-10T00:00:00Z","timestamp":1604966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Williams\u2013Beuren syndrome (WBS) is caused by an haploinsufficiency of the 7q11.2 region which involves the elastin gene (<jats:italic>ELN<\/jats:italic>). A deficiency of elastin is a known pathophysiological mechanism of emphysema\/chronic obstructive pulmonary disease (COPD). A previous study hypothesized a higher risk of COPD in WBS patients. Herein, this phenomenon was further investigated looking for a possible correlation between COPD and WBS. Dynamic lung volumes (forced vital capacity [FVC], FEV1, FEV1\/FVC) were measured in 22 patients (age range 18.9\u2009\u00b1\u20097.4\u2009years) affected with WBS, genetically confirmed, correlating these parameters to respiratory risk factors. Dyspnea, cough and wheezing were detected in 6\/22 (27%) patients. Obstructive and restrictive patterns were identified in 6\/22 (27%) and 2\/22 (9%) cases, respectively with no evidence of irreversible obstruction. CVF, FEV1 and FEV1\/CVF mean values were all normal, with values of 91.3% (n.v.\u2009&gt;\u200980%), 84.2% (n.v.\u2009&gt;\u200980%) and 0.82 (n.v.\u2009&gt;\u20090.7), respectively. The severity of the comorbidities did not show a cause\u2010effect relation with the respiratory patterns, nevertheless patients treated with anti\u2010hypertensive drugs had poorer pulmonary function. Our findings are in accordance with previous observations, showing that emphysema\/COPD is not a typical finding in young patients with WBS. However, a respiratory function assessment should be included in the follow\u2010up of WBS patients, especially in adolescents\/young adults under treatment with anti\u2010hypertensive drugs.<\/jats:p>","DOI":"10.1002\/ajmg.a.61966","type":"journal-article","created":{"date-parts":[[2020,11,11]],"date-time":"2020-11-11T07:48:06Z","timestamp":1605080886000},"page":"390-396","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Pulmonary function in Williams\u2013Beuren syndrome: Spirometric data of 22 Italian patients"],"prefix":"10.1002","volume":"185","author":[{"given":"Elisabetta","family":"Pangallo","sequence":"first","affiliation":[{"name":"Pediatric and Neonatology Department, Hospital \u201cF. Del Ponte\u201d University of Insubria  Varese Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6548-4128","authenticated-orcid":false,"given":"Paola","family":"Cianci","sequence":"additional","affiliation":[{"name":"Pediatric Department, ASST\u2010Lariana Sant'Anna Hospital, San Fermo della Battaglia  Como Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"Favuzza","sequence":"additional","affiliation":[{"name":"Pediatric Department, ASST\u2010Lariana Sant'Anna Hospital, San Fermo della Battaglia  Como Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3087-8514","authenticated-orcid":false,"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[{"name":"Highly Intensive Care Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Vimercati","sequence":"additional","affiliation":[{"name":"Pediatric Department Fondazione MBMM San Gerardo Hospital  Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Moretti","sequence":"additional","affiliation":[{"name":"Pediatric and Neonatology Department, Hospital \u201cF. 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