{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:48:36Z","timestamp":1790858916364,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T00:00:00Z","timestamp":1487203200000},"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":[[2017,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0\u00b16.8 visits\/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3\u00b14.9 years and age at last evaluation 11.2\u00b17.2 years. Median height\u2010SDS was negative at all ages. Height\u2010SDS at last visit was correlated to the midparental height\u2010SDS (<jats:italic>r<\/jats:italic>=0.52 <jats:italic>P<\/jats:italic>=0.002). Yet, participants did not reach their target height, with a difference of 1.06\u00b11.07 SD (<jats:italic>P\u2009<\/jats:italic>&lt;0.0001). Height\u2010SDS at last visit of participants with a heart defect was lower compared to participants with a normal heart (\u22121.5\u00b11.4 vs. \u22120.6\u00b10.8, <jats:italic>P<\/jats:italic>=0.036), with lower height\u2010SDS in the subgroup of participants with severe heart defects (\u22122.1\u00b11.6, <jats:italic>P<\/jats:italic>=0.009). Mean IGF1\u2010SDS was low (\u22120.99\u00b11.68) but was not correlated with height\u2010SDS. Thirteen patients (27%) had hypoparathyroidism: 10 presented during infancy and 3 during adolescence. Five patients (10.4%, female=4) had thyroid abnormalities. In conclusions, individuals with 22q11.2 DS have a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low\u2010normal range. Hypoparathyroidism is common and may present during the neonatal period as well as later in life. Thyroid abnormalities may present during childhood, adolescence, or adulthood.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38175","type":"journal-article","created":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T05:17:02Z","timestamp":1487222222000},"page":"1301-1308","source":"Crossref","is-referenced-by-count":20,"title":["Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Yael","family":"Levy\u2010Shraga","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Unit The Edmond and Lilly Safra Children's Hospital Sheba Medical Center Ramat Gan Israel"},{"name":"The Sackler School of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doron","family":"Gothelf","sequence":"additional","affiliation":[{"name":"The Sackler School of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"},{"name":"The Child Psychiatric Unit Edmond and Lilly Safra Children's Hospital Sheba Medical Center Ramat Gan Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zohar","family":"Goichberg","sequence":"additional","affiliation":[{"name":"The Sackler School of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uriel","family":"Katz","sequence":"additional","affiliation":[{"name":"The Sackler School of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"},{"name":"Edmond Safra International Congenital Heart Center Edmond and Lilly Safra Children's Hospital Sheba Medical Center Ramat Gan Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raz","family":"Somech","sequence":"additional","affiliation":[{"name":"The Sackler School of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"},{"name":"Pediatric Department of B North and Immunology Service Edmond and Lilly Safra Children's Hospital Sheba Medical Center Ramat Gan Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orit","family":"Pinhas\u2010Hamiel","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Unit The Edmond and Lilly Safra Children's Hospital Sheba Medical Center Ramat Gan Israel"},{"name":"The Sackler School of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalit","family":"Modan\u2010Moses","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Unit The Edmond and Lilly Safra Children's Hospital Sheba Medical Center Ramat Gan Israel"},{"name":"The Sackler School of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30984"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.156"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80435-4"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000086745"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-200110000-00014"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.93.9.1702"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.20281"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00007"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2014-208903"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70372-4"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35525"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-2240-z"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35426"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.14310\/horm.2002.11159"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2015.08.038"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.52.9543"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-200212000-00005"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000049982"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000328454"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.798"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.2"},{"key":"e_1_2_6_23_1","first-page":"238","volume-title":"Velo\u2010cardio\u2010facial syndrome","author":"Shprintzen R. J.","year":"2008"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37064"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2009.03736.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35485"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200101000-00005"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.101.5.929"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38175","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38175","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38175","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38175","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:46:07Z","timestamp":1693212367000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38175"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,16]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.1002\/ajmg.a.38175"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38175","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,16]]}}}