Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.
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.
Tan
Tiong Yang
TY
Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. tiong.tan@ghsv.org.au
Jameson
J Larry
JL
Campbell
Peter Ellis
PE
Ekert
Paul G
PG
Zacharin
Margaret
M
Savarirayan
Ravi
R
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