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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

Online
ISSN
2192-8959
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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

Abstract

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

References

  • [1]

    Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G, et al. Radiological evolution in IMAGe association: a case report. Am J Med Genet Part A. 2008;146A:2130–2133.Google Scholar

  • [2]

    Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz- de-Souza B, et al. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nature Genet. 2012;44: 788–792.CrossrefGoogle Scholar

  • [3]

    Bergada I, Del Rey G, Lapunzina P, Bergada C, Fellous M, Copelli S. Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. T J Clin Endocrinol Metabol. 2005;90:3186–3190.CrossrefGoogle Scholar

  • [4]

    Ferey S, Merzoug V, Linglart A, Chaussain JL, Kalifa G. [A peculiar form of neonatal adrenal insufficiency: the IMAGe association. Two new cases]. J De Radiol. 2003;84:323–325. PubMed PMID: 12736593. Une forme particuliere d’insuffisance surrenalienne du nouveau ne: l’association IMAGe. A propos de deux nouveaux cas.Google Scholar

  • [5]

    Lienhardt A, Mas JC, Kalifa G, Chaussain JL, Tauber M. IMAGe association: additional clinical features and evidence for recessive autosomal inheritance. Hormone Res. 2002;57 (Suppl 2):71–78.Google Scholar

  • [6]

    Pedreira CC, Savarirayan R, Zacharin MR. IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. T J Pediatr. 2004;144: 274–277.CrossrefGoogle Scholar

  • [7]

    Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R. Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. Am J Med Genet Part A. 2006;140:1778–1784.CrossrefGoogle Scholar

  • [8]

    Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, et al. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. T J Clin Endocrinol Metabol. 1999;84:4335–4340.CrossrefGoogle Scholar

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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