Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2006 Aug 15;140(16):1778-84.
doi: 10.1002/ajmg.a.31365.

Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

Tiong Yang Tan  1 , J Larry Jameson, Peter Ellis Campbell, Paul G Ekert, Margaret Zacharin, Ravi Savarirayan
Affiliations
Case Reports

Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

Tiong Yang Tan et al. Am J Med Genet A. .

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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

  • Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.
    Hamajima N, Johmura Y, Suzuki S, Nakanishi M, Saitoh S. Hamajima N, et al. PLoS One. 2013 Sep 30;8(9):e75137. doi: 10.1371/journal.pone.0075137. eCollection 2013. PLoS One. 2013. PMID: 24098681 Free PMC article.
  • Anesthetic and dental management of a child with IMAGe syndrome.
    Lindemeyer RG, Rashewsky SE, Louie PJ, Schleelein L. Lindemeyer RG, et al. Anesth Prog. 2014 Winter;61(4):165-8. doi: 10.2344/0003-3006-61.4.165. Anesth Prog. 2014. PMID: 25517553 Free PMC article.
  • DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
    Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
  • Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
    Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Arboleda VA, et al. Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275. Nat Genet. 2012. PMID: 22634751 Free PMC article.

Publication types

MeSH terms

LinkOut - more resources