title: Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.
abstract: Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (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 (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed.
authors.affiliation: Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. tiong.tan@ghsv.org.au
authors.forename: Tiong Yang
authors.initials: TY
authors.lastname: Tan
authors.forename: J Larry
authors.initials: JL
authors.lastname: Jameson
authors.forename: Peter Ellis
authors.initials: PE
authors.lastname: Campbell
authors.forename: Paul G
authors.initials: PG
authors.lastname: Ekert
authors.forename: Margaret
authors.initials: M
authors.lastname: Zacharin
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
mesh_terms: D000311:Adrenal Glands / Q000002:abnormalities; D000309:Adrenal Insufficiency / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities / Q000000981:diagnostic imaging; D005500:Follow-Up Studies; D005808:Genes, Recessive; D050172:Genes, X-Linked; D006801:Humans; D007223:Infant; D050279:Metacarpal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D012272:Ribs / Q000002:abnormalities / Q000000981:diagnostic imaging; D035781:Siblings; D013577:Syndrome; D016216:Ultrasonography, Prenatal