{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T16:15:00Z","timestamp":1764173700477},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,11,24]],"date-time":"2010-11-24T00:00:00Z","timestamp":1290556800000},"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by <jats:italic>i<\/jats:italic>ntrauterine growth restriction, <jats:italic>m<\/jats:italic>etaphyseal dysplasia, congenital <jats:italic>a<\/jats:italic>drenal hypoplasia, and <jats:italic>g<\/jats:italic>enital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life\u2010threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and\/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. We report on a 7\u2010year\u2010old boy with IMAGe syndrome, who in addition to the features in the acronym also has bilateral sensorineural hearing loss which has not been reported in previously published cases of IMAGe syndrome. We discuss the clinical presentation in our patient and review the literature in this rare multisystem disorder. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33716","type":"journal-article","created":{"date-parts":[[2010,12,3]],"date-time":"2010-12-03T13:36:47Z","timestamp":1291383407000},"page":"3138-3142","source":"Crossref","is-referenced-by-count":22,"title":["IMAGe syndrome: Case report with a previously unreported feature and review of published literature"],"prefix":"10.1002","volume":"152A","author":[{"given":"Meena","family":"Balasubramanian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan","family":"Sprigg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana S.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,11,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32425"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1589"},{"key":"e_1_2_5_4_1","first-page":"110","article-title":"Congenital adrenal hypoplasia in association with growth hormone deficiency, developmental delay, partial androgen resistance, unusual facies, and skeletal abnormalities","volume":"4","author":"Blethen SL","year":"1990","journal-title":"Dysmorphol Clin Genet"},{"key":"e_1_2_5_5_1","first-page":"323","article-title":"A peculiar form of neonatal adrenal insufficiency: The IMAGe association\u2014About two new cases","volume":"84","author":"Ferey S","year":"2003","journal-title":"J Radiol (Paris)"},{"key":"e_1_2_5_6_1","first-page":"63A","article-title":"Adrenal hypoplasia associated with severe growth deficiency, specific pattern of malformations and psychomotor retardation","volume":"39","author":"Hall BD","year":"1991","journal-title":"Clin Res"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.01.006"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0321-y"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000058105"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.09.052"},{"key":"e_1_2_5_11_1","first-page":"47","volume-title":"Gamuts in bone, joint and spine radiology","author":"Reeder MM","year":"2003"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31365"},{"key":"e_1_2_5_13_1","doi-asserted-by":"crossref","first-page":"4335","DOI":"10.1210\/jcem.84.12.6186","article-title":"IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital abnormalities","volume":"84","author":"Vilain E","year":"1999","journal-title":"J Clin Endocr Metab"}],"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.33716","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33716","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T04:17:06Z","timestamp":1696997826000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,24]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1002\/ajmg.a.33716"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33716","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,24]]}}}