{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:56:49Z","timestamp":1791115009090,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"16","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"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":[[2006,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X\u2010linked (OMIM 300200) and autosomal recessive (OMIM 240200) forms are recognized. Recently, an association between Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described. We present the clinical features of two sisters with intrauterine growth restriction, AHC, and dysmorphic features. Interesting histopathologic findings of one sister are also presented. We suggest that IMAGe syndrome is the most plausible diagnosis and that autosomal recessive inheritance is likely. We analyzed genes that were postulated candidates for IMAGe syndrome (<jats:italic>SF1<\/jats:italic>, <jats:italic>DAX\u20101<\/jats:italic>, and <jats:italic>STAR<\/jats:italic>), and no mutations were found. Other cases of IMAGe syndrome are reviewed. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31365","type":"journal-article","created":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T23:16:39Z","timestamp":1152659799000},"page":"1778-1784","source":"Crossref","is-referenced-by-count":18,"title":["Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review"],"prefix":"10.1002","volume":"140A","author":[{"given":"Tiong Yang","family":"Tan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Larry","family":"Jameson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter Ellis","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul G.","family":"Ekert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Zacharin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Savarirayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.12.4497"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/9629"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-497"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)90921-7"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1589"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0434"},{"key":"e_1_2_6_8_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_6_9_1","first-page":"241","article-title":"The gene responsible for adrenal hypoplasia congenita, DAX\u20101, encodes a nuclear hormone receptor that defines a new class within the superfamily","volume":"51","author":"Burris TP","year":"1996","journal-title":"Recent Prog Horm Res"},{"key":"e_1_2_6_10_1","first-page":"323","article-title":"A peculiar form of neonatal adrenal insufficiency: The IMAGe association. 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