{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T10:40:36Z","timestamp":1758192036418,"version":"3.44.0"},"reference-count":0,"publisher":"Necmettin Erbakan University Press","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosing and treating SDB in these children have a positive impact on the quality of life of them and their families, reducing the risk of both further impairment of cognitive abilities and cardiopulmonary complications. We report a familial case of SDB with central hypoventilation, in which identification of the disorder in the younger sister led to the unfortunately late diagnosis and treatment of the same condition in the older sister.<\/jats:p>","DOI":"10.1055\/s-0039-1698808","type":"journal-article","created":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T18:58:50Z","timestamp":1571684330000},"page":"132-136","source":"Crossref","is-referenced-by-count":0,"title":["Familial Sleep Disorders in Unknown Genetic Syndrome"],"prefix":"10.53391","volume":"09","author":[{"given":"Mara","family":"Lelii","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Universit\u00e0 degli Studi di Milano, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Baggi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Senatore","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Universit\u00e0 degli Studi di Milano, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Francesca","family":"Bedeschi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robertino","family":"Dilena","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Medical Genetic Unit, Ospedale Papa Giovanni XXIII, Bergamo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Gangi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Marchisio","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Universit\u00e0 degli Studi di Milano, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Francesca","family":"Patria","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2019,10,21]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1698808.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:41Z","timestamp":1758138341000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1698808"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,21]]},"references-count":0,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2020,4,25]]},"published-print":{"date-parts":[[2020,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1698808","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"type":"print","value":"2146-4596"},{"type":"electronic","value":"2146-460X"}],"subject":[],"published":{"date-parts":[[2019,10,21]]}}}