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Case Reports in Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, MD, FRCOG, Joachim W.

Ed. by Chandraharan, Edwin / Lee, Ben H. / Weichert, Alexander

Editorial Board: Aslam, Muhammad / Bergmann, Renate L. / Bancalari, Eduardo / Bernardes, J.F. / Blickstein, Isaac / Cabero Roura, Luis / Carbonell-Estrany, Xavier / Carrera, Jose M. / Chervenak, Frank A. / Chappelle, Joseph / D`Addario, Vincenzo / D'Alton, MD, Mary E. / Genc, Mehmet R. / Greenough, Anne / Grunebaum, Amos / Hentschel, Roland / Holzgreve, Wolfgang / Keirse, Marc J.N.C. / Kurjak M.D., Asim / Lockwood, Charles J. / Marsal, Karel / Martinez, Chairman, Jorge Cesar / Niklas, Victoria / Papp, Zoltán / Pejaver, Ranjan Kumar / Pooh, Ritsuko K. / Schenker, Joseph G. / Sen, Cihat / Seri, Istvan / Skupski, Daniel W. / Vetter, Klaus / Winn, Hung N. / Young, Bruce K. / Zimmermann, Roland

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IMAGe syndrome in the era of genetic testing: clues to diagnosis

Adia Stokes
  • Corresponding author
  • Neonatology, University of Maryland Medical Center, 110 S. Paca Street, 8th Floor, Baltimore, MD 21201, USA
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/ Suma Hoffman / Parissa Salemi / Julie Kaplan
Published Online: 2014-08-19 | DOI: https://doi.org/10.1515/crpm-2014-0005


IMAGe syndrome (Intrauterine growth restriction (IUGR), Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) is a rare, multisystem disorder caused by mutations in the PCNA-binding domain of CDKN1C. Reported here is a male infant diagnosed with IMAGe syndrome by CDKN1C sequencing at 3 months of age. He presented with IUGR, primary adrenal insufficiency with adrenal crisis in the neonatal period, dysmorphic facies, and bilateral cryptorchidism. Interestingly, he demonstrates several additional clinical findings not previously reported with IMAGe syndrome including congenital hypothyroidism, recurrent bacterial infections, and severe eczema.

Keywords: CDKN1C; congenital adrenal hypoplasia; IMAGe syndrome


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About the article

Corresponding author: Adia Stokes, Neonatology, University of Maryland Medical Center, 110 S. Paca Street, 8th Floor, Baltimore, MD 21201, USA, E-mail:

Received: 2014-01-31

Accepted: 2014-07-21

Published Online: 2014-08-19

Published in Print: 2015-03-01

The authors stated that there are no conflicts of interest regarding the publication of this article.

Citation Information: Case Reports in Perinatal Medicine, Volume 4, Issue 1, Pages 65–68, ISSN (Online) 2192-8959, ISSN (Print) 2192-8932, DOI: https://doi.org/10.1515/crpm-2014-0005.

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