{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T11:10:51Z","timestamp":1759057851193},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,17]],"date-time":"2006-01-17T00:00:00Z","timestamp":1137456000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Costello syndrome (CS) was initially described by Costello in 1971; it is caused by a germline mutation in HRAS proto\u2010oncogene. The aim of the present study was to evaluate the respiratory activity during sleep in a group of subjects with CS. We studied 10 consecutive patients, 4 males and 6 females, aged 3\u201329 years, affected by CS. All patients underwent clinical, neurological, otholaryngologic and radiologic evaluation, and a full\u2010night polysomnography in the sleep laboratory. Polysomnography showed that seven patients presented a relevant number of respiratory events of obstructive type during sleep. The apnea\u2010hypopnea index (AHI) ranged from 0 to 19.2 events per hour (mean index\u2009=\u20097.5\u2009\u00b1\u20096.9 events\/hr). In one patient AHI was not evaluable because of tracheostomy. Apnea induced mild or moderate hemoglobin desaturations (mean of lowest SpO<jats:sub>2<\/jats:sub> values\u2009=\u200985.4\u2009\u00b1\u20095.5%). Only sporadic respiratory pauses of central type were observed (mean number of central apnea per study: 7.2\u2009\u00b1\u20096.8 events\/hr). Sleep structure was fragmented, with a high number of awakenings (mean number of awakenings was 13.2\u2009\u00b1\u20098.1; of these, 4.8\u2009\u00b1\u20092.5 lasted longer than 2 min). In all patients, otolaryngologic and radiologic observations revealed one or more sites of narrowing in the upper airways. Our results suggest that Costello patients have a high prevalence of obstructive sleep\u2010related respiratory disorders, which need to be assessed by means of polysomnography. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31076","type":"journal-article","created":{"date-parts":[[2006,1,18]],"date-time":"2006-01-18T00:18:28Z","timestamp":1137543508000},"page":"257-262","source":"Crossref","is-referenced-by-count":15,"title":["Obstructive sleep apnea in Costello syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"Giacomo Della","family":"Marca","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Vasta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Scarano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Rigante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"De Feo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Mariotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Rubino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catello","family":"Vollono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gioacchino Francesco","family":"Mennuni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Tonali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,1,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.4.704"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/sleep\/27.5.997"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200050101"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8619(05)70275-9"},{"key":"e_1_2_5_7_1","first-page":"397","article-title":"A new syndrome","volume":"74","author":"Costello JM","year":"1971","journal-title":"NZ Med J"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.183.1.1830175"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.2165\/00151829-200403020-00005"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1043-1810(10)80211-8"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.159.8.775"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302829"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1460-9592.2003.01052.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200403-262OC"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.10453"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1087-0792(98)90012-0"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1389-9457(99)00004-0"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960202)61:4<304::AID-AJMG2>3.0.CO;2-U"},{"issue":"6","key":"e_1_2_5_19_1","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1093\/sleep\/15.suppl_6.S1","article-title":"Epidemiology of obstructive sleep apnea syndrome","volume":"15","author":"Partinen M","year":"1992","journal-title":"Sleep"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200005113421901"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-200407000-00026"},{"key":"e_1_2_5_22_1","first-page":"27","article-title":"Costello syndrome: Report of an 8\u2010month\u2010old marasmic boy","volume":"7","author":"Popa M","year":"1996","journal-title":"Genet Counsel"},{"key":"e_1_2_5_23_1","unstructured":"RechtschaffenA KalesA.1968.A manual of standardized terminology technique and scoring system for sleep stages of human subjects. 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